Canonical Allele Identifier: CA457447506

Gene: MET

Linked Data

• ClinVar Variation Id: 1126785
• ClinVar RCV Id: RCV001458944
• dbSNP Id: rs1355100822
• gnomAD v2: 7-116411680-G-C
• gnomAD v4: 7-116771626-G-C
• MyVariant Identifiers: chr7:g.116411680G>C (hg19) ; chr7:g.116771626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771626G>C , CM000669.2:g.116771626G>C	GRCh38
NC_000007.13:g.116411680G>C , CM000669.1:g.116411680G>C	GRCh37
NC_000007.12:g.116198916G>C	NCBI36
NG_008996.1:g.104222G>C , LRG_662:g.104222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*464G>C	ENSP00000410980.2:n.*464G>C
ENST00000318493.11:c.2913G>C	ENSP00000317272.6:p.Leu971=
ENST00000397752.8:c.2859G>C MANE Select	ENSP00000380860.3:p.Leu953=
ENST00000318493.10:c.2913G>C	ENSP00000317272.6:p.Leu971=
ENST00000397752.7:c.2859G>C	ENSP00000380860.3:p.Leu953=
ENST00000454623.1:c.255G>C	ENSP00000398140.1:p.Leu85=
NM_000245.2:c.2859G>C	NP_000236.2:p.Leu953=
NM_001127500.1:c.2913G>C , LRG_662t1:c.2913G>C	NP_001120972.1:p.Leu971=
XM_006715990.2:c.1569G>C	XP_006716053.1:p.Leu523=
XM_006715991.2:c.1569G>C	XP_006716054.1:p.Leu523=
XM_011516223.1:c.2916G>C	XP_011514525.1:p.Leu972=
NM_000245.3:c.2859G>C	NP_000236.2:p.Leu953=
NM_001127500.2:c.2913G>C	NP_001120972.1:p.Leu971=
NM_001324402.1:c.1569G>C	NP_001311331.1:p.Leu523=
XR_001744772.1:n.2990G>C
NM_001127500.3:c.2913G>C	NP_001120972.1:p.Leu971=
NM_000245.4:c.2859G>C MANE Select	NP_000236.2:p.Leu953=
NM_001324402.2:c.1569G>C	NP_001311331.1:p.Leu523=