Canonical Allele Identifier: CA334713

Gene: MET

Linked Data

• ClinVar Variation Id: 188358
• ClinVar RCV Id: RCV000168390 ; RCV000564000 ; RCV000610933 ; RCV001507175 ; RCV001843487 ; RCV003927559
• dbSNP Id: rs199771406
• ExAC: 7:116395422 G / A
• gnomAD v2: 7-116395422-G-A
• gnomAD v3: 7-116755368-G-A
• gnomAD v4: 7-116755368-G-A
• MyVariant Identifiers: chr7:g.116395422G>A (hg19) ; chr7:g.116755368G>A (hg38)
• PubMed: PMID:26727948

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116755368G>A , CM000669.2:g.116755368G>A	GRCh38
NC_000007.13:g.116395422G>A , CM000669.1:g.116395422G>A	GRCh37
NC_000007.12:g.116182658G>A	NCBI36
NG_008996.1:g.87964G>A , LRG_662:g.87964G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000422097.2:c.1715G>A	ENSP00000398776.2:p.Ser572Asn
ENST00000436117.3:c.1715G>A	ENSP00000410980.2:p.Ser572Asn
ENST00000318493.11:c.1715G>A	ENSP00000317272.6:p.Ser572Asn
ENST00000397752.8:c.1715G>A MANE Select	ENSP00000380860.3:p.Ser572Asn
ENST00000318493.10:c.1715G>A	ENSP00000317272.6:p.Ser572Asn
ENST00000397752.7:c.1715G>A	ENSP00000380860.3:p.Ser572Asn
ENST00000436117.2:c.1715G>A	ENSP00000410980.2:p.Ser572Asn
ENST00000495962.1:n.695G>A
NM_000245.2:c.1715G>A	NP_000236.2:p.Ser572Asn
NM_001127500.1:c.1715G>A , LRG_662t1:c.1715G>A	NP_001120972.1:p.Ser572Asn
XM_006715990.2:c.425G>A	XP_006716053.1:p.Ser142Asn
XM_006715991.2:c.425G>A	XP_006716054.1:p.Ser142Asn
XM_011516223.1:c.1772G>A	XP_011514525.1:p.Ser591Asn
NM_000245.3:c.1715G>A	NP_000236.2:p.Ser572Asn
NM_001127500.2:c.1715G>A	NP_001120972.1:p.Ser572Asn
NM_001324401.1:c.1715G>A	NP_001311330.1:p.Ser572Asn
NM_001324402.1:c.425G>A	NP_001311331.1:p.Ser142Asn
XR_001744772.1:n.1946G>A
NM_001127500.3:c.1715G>A	NP_001120972.1:p.Ser572Asn
NM_000245.4:c.1715G>A MANE Select	NP_000236.2:p.Ser572Asn
NM_001324401.2:c.1715G>A	NP_001311330.1:p.Ser572Asn
NM_001324402.2:c.425G>A	NP_001311331.1:p.Ser142Asn
NM_001324401.3:c.1715G>A	NP_001311330.1:p.Ser572Asn