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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 ALK:

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
ENSG00000171094	ALK	0	0	49	ENSG00000171094	ENST00000389048	ENSP00000373700	anaplastic lymphoma receptor tyrosine kinase [Source:HGNC Symbol;Acc:427]	2	29415640	30144432	-1	p23.1	29415640	30144432	ALK	ALK-001	HGNC Symbol	HGNC transcript name	4	43.51	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	238	427	ALK	NM_004304	27508

MSeqDR Master Exome Data Set M1: 152 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	2	29415670	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	2	29415670	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
3	2	29415792	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs1728828	1	-	-	-	-	-	hom	659
4	2	29415792	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs1728828	1	-	-	-	-	-	het	1
5	2	29415905	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	2	29416025	C	+ATTG	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs10686493	-	-	-	-	-	-	het	371
7	2	29416025	C	+ATTG	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs10686493	-	-	-	-	-	-	hom	37
8	2	29416027	T	C	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs182561050	0.035	-	-	-	-	-	het	1
9	2	29416029	G	T	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	2	29416037	C	G	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs80088378	0.0714	-	-	-	-	-	hom	1
11	2	29416037	C	G	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	rs80088378	0.0714	-	-	-	-	-	het	13
12	2	29416086	G	T	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	2	29416117	C	T	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	c.4836G>A	p.K1612K	syn	rs78174819	0.0115	T=0/C=8600;T=63/C=4343;T=63/C=12943	-	-	-	-	het	2
14	2	29416117	C	T	ENST00000431873	ENSG00000171094	29415640	30144432	ENSP00000414027	ALK	-1	-	c.1326G>A	p.K442K	syn	rs78174819	0.0115	T=0/C=8600;T=63/C=4343;T=63/C=12943	-	-	-	-	het	2
15	2	29416168	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	c.4785C>T	p.A1595A	syn	rs76150405	-	A=20/G=8580;A=1/G=4405;A=21/G=12985	lod=25:313	-	-	-	het	7
16	2	29416168	G	A	ENST00000431873	ENSG00000171094	29415640	30144432	ENSP00000414027	ALK	-1	-	c.1275C>T	p.A425A	syn	rs76150405	-	A=20/G=8580;A=1/G=4405;A=21/G=12985	lod=25:313	-	-	-	het	7
17	2	29416185	C	T	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	c.4768G>A	p.G1590S	non-syn	rs190639819	0.0033	-	lod=366:600	DAMAGING	P	-	het	1
18	2	29416185	C	T	ENST00000431873	ENSG00000171094	29415640	30144432	ENSP00000414027	ALK	-1	-	c.1258G>A	p.G420S	non-syn	rs190639819	0.0033	-	lod=366:600	DAMAGING	P	-	het	1
19	2	29416357	G	A	ENST00000389048	ENSG00000171094	29415640	30144432	ENSP00000373700	ALK	-1	ALK_HUMAN	c.4596C>T	p.N1532N	syn	rs1881422	0.0647	A=3/G=8597;A=252/G=4154;A=255/G=12751	-	-	-	-	het	1
20	2	29416357	G	A	ENST00000431873	ENSG00000171094	29415640	30144432	ENSP00000414027	ALK	-1	-	c.1086C>T	p.N362N	syn	rs1881422	0.0647	A=3/G=8597;A=252/G=4154;A=255/G=12751	-	-	-	-	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 ALK 2:29415640..30144432 region Gbrowse