Canonical Allele Identifier: CA10584669

Gene: MET

Linked Data

• ClinVar Variation Id: 246642
• ClinVar RCV Id: RCV000236130 ; RCV001312219 ; RCV002450741
• dbSNP Id: rs879254339
• gnomAD v3: 7-116699446-T-C
• gnomAD v4: 7-116699446-T-C
• MyVariant Identifiers: chr7:g.116339500T>C (hg19) ; chr7:g.116699446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116699446T>C , CM000669.2:g.116699446T>C	GRCh38
NC_000007.13:g.116339500T>C , CM000669.1:g.116339500T>C	GRCh37
NC_000007.12:g.116126736T>C	NCBI36
NG_008996.1:g.32042T>C , LRG_662:g.32042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.362T>C	ENSP00000398776.2:p.Val121Ala
ENST00000436117.3:c.362T>C	ENSP00000410980.2:p.Val121Ala
ENST00000318493.11:c.362T>C	ENSP00000317272.6:p.Val121Ala
ENST00000397752.8:c.362T>C MANE Select	ENSP00000380860.3:p.Val121Ala
ENST00000318493.10:c.362T>C	ENSP00000317272.6:p.Val121Ala
ENST00000397752.7:c.362T>C	ENSP00000380860.3:p.Val121Ala
ENST00000436117.2:c.362T>C	ENSP00000410980.2:p.Val121Ala
ENST00000456159.1:c.419T>C	ENSP00000413857.1:p.Val140Ala
NM_000245.2:c.362T>C	NP_000236.2:p.Val121Ala
NM_001127500.1:c.362T>C , LRG_662t1:c.362T>C	NP_001120972.1:p.Val121Ala
XM_006715991.2:c.-91+26869T>C	XP_006716054.1:n.-91+26869T>C
XM_011516223.1:c.419T>C	XP_011514525.1:p.Val140Ala
NM_000245.3:c.362T>C	NP_000236.2:p.Val121Ala
NM_001127500.2:c.362T>C	NP_001120972.1:p.Val121Ala
NM_001324401.1:c.362T>C	NP_001311330.1:p.Val121Ala
NM_001324402.1:c.-91+26869T>C	NP_001311331.1:n.-91+26869T>C
XR_001744772.1:n.593T>C
NM_001127500.3:c.362T>C	NP_001120972.1:p.Val121Ala
NM_000245.4:c.362T>C MANE Select	NP_000236.2:p.Val121Ala
NM_001324401.2:c.362T>C	NP_001311330.1:p.Val121Ala
NM_001324402.2:c.-91+26869T>C	NP_001311331.1:n.-91+26869T>C
NM_001324401.3:c.362T>C	NP_001311330.1:p.Val121Ala