Canonical Allele Identifier: CA4448613

Gene: MET

Linked Data

• ClinVar Variation Id: 862493
• ClinVar RCV Id: RCV001069224 ; RCV002436677
• dbSNP Id: rs757925979
• ExAC: 7:116411920 G / C
• gnomAD v2: 7-116411920-G-C
• gnomAD v4: 7-116771866-G-C
• MyVariant Identifiers: chr7:g.116411920G>C (hg19) ; chr7:g.116771866G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771866G>C , CM000669.2:g.116771866G>C	GRCh38
NC_000007.13:g.116411920G>C , CM000669.1:g.116411920G>C	GRCh37
NC_000007.12:g.116199156G>C	NCBI36
NG_008996.1:g.104462G>C , LRG_662:g.104462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*510G>C	ENSP00000410980.2:n.*510G>C
ENST00000318493.11:c.2959G>C	ENSP00000317272.6:p.Val987Leu
ENST00000397752.8:c.2905G>C MANE Select	ENSP00000380860.3:p.Val969Leu
ENST00000318493.10:c.2959G>C	ENSP00000317272.6:p.Val987Leu
ENST00000397752.7:c.2905G>C	ENSP00000380860.3:p.Val969Leu
ENST00000454623.1:c.283+212G>C	ENSP00000398140.1:n.283+212G>C
NM_000245.2:c.2905G>C	NP_000236.2:p.Val969Leu
NM_001127500.1:c.2959G>C , LRG_662t1:c.2959G>C	NP_001120972.1:p.Val987Leu
XM_006715990.2:c.1615G>C	XP_006716053.1:p.Val539Leu
XM_006715991.2:c.1615G>C	XP_006716054.1:p.Val539Leu
XM_011516223.1:c.2962G>C	XP_011514525.1:p.Val988Leu
NM_000245.3:c.2905G>C	NP_000236.2:p.Val969Leu
NM_001127500.2:c.2959G>C	NP_001120972.1:p.Val987Leu
NM_001324402.1:c.1615G>C	NP_001311331.1:p.Val539Leu
XR_001744772.1:n.3036G>C
NM_001127500.3:c.2959G>C	NP_001120972.1:p.Val987Leu
NM_000245.4:c.2905G>C MANE Select	NP_000236.2:p.Val969Leu
NM_001324402.2:c.1615G>C	NP_001311331.1:p.Val539Leu