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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ACTA1:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000143632	ACTA1	0	0	44	ENSG00000143632	ENST00000366684	ENSP00000355645	actin, alpha 1, skeletal muscle [Source:HGNC Symbol;Acc:129]	1	229566992	229569845	-1	q42.13	229566992	229569841	ACTA1	ACTA1-001	HGNC Symbol	HGNC transcript name	2	62.54	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	58	129	ACTA1	NM_001100	27511

MSeqDR Master Exome Data Set M1: 40 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	1	229566998	C	T	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
2	1	229566998	C	T	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
3	1	229567384	G	T	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	c.732C>A	p.I244I	syn	rs74897770	0.0653	T=2/G=8598;T=253/G=4153;T=255/G=12751	lod=111:472	-	-	-	het	2
4	1	229567384	G	T	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	c.732C>A	p.I244I	syn	rs74897770	0.0653	T=2/G=8598;T=253/G=4153;T=255/G=12751	lod=111:472	-	-	-	hom	3
5	1	229567384	G	T	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	c.996C>A	p.I332I	syn	rs74897770	0.0653	T=2/G=8598;T=253/G=4153;T=255/G=12751	lod=111:472	-	-	-	het	2
6	1	229567384	G	T	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	c.996C>A	p.I332I	syn	rs74897770	0.0653	T=2/G=8598;T=253/G=4153;T=255/G=12751	lod=111:472	-	-	-	hom	3
7	1	229567660	C	+G	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-11bp 3'_splice_site	rs201427429	-	-	-	-	-	-	het	227
8	1	229567660	C	+G	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-11bp 3'_splice_site	rs201427429	-	-	-	-	-	-	hom	19
9	1	229567660	C	+G	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-11bp 3'_splice_site	rs201427429	-	-	-	-	-	-	het	227
10	1	229567660	C	+G	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-11bp 3'_splice_site	rs201427429	-	-	-	-	-	-	hom	19
11	1	229567662	G	+A	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-13bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
12	1	229567662	G	+A	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-13bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
13	1	229567663	C	+G	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-14bp 3'_splice_site	NA	-	G=285/C=8315;G=1554/C=2850;G=1839/C=11165	-	-	-	-	het	6
14	1	229567663	C	G	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-14bp 3'_splice_site	rs6673359	0.3182	G=285/C=8315;G=1554/C=2850;G=1839/C=11165	-	-	-	-	het	40
15	1	229567663	C	G	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-14bp 3'_splice_site	rs6673359	0.3182	G=285/C=8315;G=1554/C=2850;G=1839/C=11165	-	-	-	-	hom	11
16	1	229567663	C	+G	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-14bp 3'_splice_site	NA	-	G=285/C=8315;G=1554/C=2850;G=1839/C=11165	-	-	-	-	het	6
17	1	229567663	C	G	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-14bp 3'_splice_site	rs6673359	0.3182	G=285/C=8315;G=1554/C=2850;G=1839/C=11165	-	-	-	-	het	40
18	1	229567663	C	G	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-14bp 3'_splice_site	rs6673359	0.3182	G=285/C=8315;G=1554/C=2850;G=1839/C=11165	-	-	-	-	hom	11
19	1	229567666	G	+A	ENST00000366683	ENSG00000143632	229566992	229569845	ENSP00000355644	ACTA1	-1	-	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
20	1	229567666	G	+A	ENST00000366684	ENSG00000143632	229566992	229569845	ENSP00000355645	ACTA1	-1	ACTS_HUMAN	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	het	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ACTA1 1:229566992..229569845 region Gbrowse