Canonical Allele Identifier: CA164905068

Gene: MET

Linked Data

• ClinVar Variation Id: 822592
• ClinVar RCV Id: RCV001018062 ; RCV001039921 ; RCV003467644
• dbSNP Id: rs910937816
• gnomAD v2: 7-116411975-G-A
• gnomAD v4: 7-116771921-G-A
• COSMIC: COSM5997261
• MyVariant Identifiers: chr7:g.116411975G>A (hg19) ; chr7:g.116771921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771921G>A , CM000669.2:g.116771921G>A	GRCh38
NC_000007.13:g.116411975G>A , CM000669.1:g.116411975G>A	GRCh37
NC_000007.12:g.116199211G>A	NCBI36
NG_008996.1:g.104517G>A , LRG_662:g.104517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*565G>A	ENSP00000410980.2:n.*565G>A
ENST00000318493.11:c.3014G>A	ENSP00000317272.6:p.Arg1005Gln
ENST00000397752.8:c.2960G>A MANE Select	ENSP00000380860.3:p.Arg987Gln
ENST00000318493.10:c.3014G>A	ENSP00000317272.6:p.Arg1005Gln
ENST00000397752.7:c.2960G>A	ENSP00000380860.3:p.Arg987Gln
ENST00000454623.1:c.283+267G>A	ENSP00000398140.1:n.283+267G>A
NM_000245.2:c.2960G>A	NP_000236.2:p.Arg987Gln
NM_001127500.1:c.3014G>A , LRG_662t1:c.3014G>A	NP_001120972.1:p.Arg1005Gln
XM_006715990.2:c.1670G>A	XP_006716053.1:p.Arg557Gln
XM_006715991.2:c.1670G>A	XP_006716054.1:p.Arg557Gln
XM_011516223.1:c.3017G>A	XP_011514525.1:p.Arg1006Gln
NM_000245.3:c.2960G>A	NP_000236.2:p.Arg987Gln
NM_001127500.2:c.3014G>A	NP_001120972.1:p.Arg1005Gln
NM_001324402.1:c.1670G>A	NP_001311331.1:p.Arg557Gln
XR_001744772.1:n.3091G>A
NM_001127500.3:c.3014G>A	NP_001120972.1:p.Arg1005Gln
NM_000245.4:c.2960G>A MANE Select	NP_000236.2:p.Arg987Gln
NM_001324402.2:c.1670G>A	NP_001311331.1:p.Arg557Gln