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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 SERPINA1:

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
ENSG00000197249	SERPINA1	0	0	55	ENSG00000197249	ENST00000555289		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 [Source:HGNC Symbol;Acc:8941]	14	94843084	94857030	-1	q32.13	94849966	94856972	SERPINA1	SERPINA1-014	HGNC Symbol	HGNC transcript name	19	51.8	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	5265	8941	SERPINA1		27520

MSeqDR Master Exome Data Set M1: 585 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	14	94843211	G	A	ENST00000355814	ENSG00000197249	94843084	94857030	ENSP00000348068	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	14	94843211	G	A	ENST00000437397	ENSG00000197249	94843084	94857030	ENSP00000408474	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	14	94843211	G	A	ENST00000440909	ENSG00000197249	94843084	94857030	ENSP00000390299	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	14	94843211	G	A	ENST00000448921	ENSG00000197249	94843084	94857030	ENSP00000416066	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	14	94843219	G	C	ENST00000355814	ENSG00000197249	94843084	94857030	ENSP00000348068	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs79555504	0.0111	-	-	-	-	-	het	3
6	14	94843219	G	C	ENST00000437397	ENSG00000197249	94843084	94857030	ENSP00000408474	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs79555504	0.0111	-	-	-	-	-	het	3
7	14	94843219	G	C	ENST00000440909	ENSG00000197249	94843084	94857030	ENSP00000390299	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs79555504	0.0111	-	-	-	-	-	het	3
8	14	94843219	G	C	ENST00000448921	ENSG00000197249	94843084	94857030	ENSP00000416066	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs79555504	0.0111	-	-	-	-	-	het	3
9	14	94843231	G	A	ENST00000355814	ENSG00000197249	94843084	94857030	ENSP00000348068	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	het	6
10	14	94843231	G	A	ENST00000355814	ENSG00000197249	94843084	94857030	ENSP00000348068	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	hom	1
11	14	94843231	G	A	ENST00000437397	ENSG00000197249	94843084	94857030	ENSP00000408474	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	het	6
12	14	94843231	G	A	ENST00000437397	ENSG00000197249	94843084	94857030	ENSP00000408474	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	hom	1
13	14	94843231	G	A	ENST00000440909	ENSG00000197249	94843084	94857030	ENSP00000390299	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	het	6
14	14	94843231	G	A	ENST00000440909	ENSG00000197249	94843084	94857030	ENSP00000390299	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	hom	1
15	14	94843231	G	A	ENST00000448921	ENSG00000197249	94843084	94857030	ENSP00000416066	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	het	6
16	14	94843231	G	A	ENST00000448921	ENSG00000197249	94843084	94857030	ENSP00000416066	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	rs56325294	0.0874	-	lod=14:251	-	-	-	hom	1
17	14	94843236	C	G	ENST00000355814	ENSG00000197249	94843084	94857030	ENSP00000348068	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	14	94843236	C	G	ENST00000437397	ENSG00000197249	94843084	94857030	ENSP00000408474	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
19	14	94843236	C	G	ENST00000440909	ENSG00000197249	94843084	94857030	ENSP00000390299	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	14	94843236	C	G	ENST00000448921	ENSG00000197249	94843084	94857030	ENSP00000416066	SERPINA1	-1	A1AT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SERPINA1 14:94843084..94857030 region Gbrowse