Canonical Allele Identifier: CA368987327

Gene: MET

Linked Data

• ClinVar Variation Id: 454230
• ClinVar RCV Id: RCV002231663
• dbSNP Id: rs1554398418
• gnomAD v4: 7-116771948-T-C
• MyVariant Identifiers: chr7:g.116412002T>C (hg19) ; chr7:g.116771948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771948T>C , CM000669.2:g.116771948T>C	GRCh38
NC_000007.13:g.116412002T>C , CM000669.1:g.116412002T>C	GRCh37
NC_000007.12:g.116199238T>C	NCBI36
NG_008996.1:g.104544T>C , LRG_662:g.104544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*592T>C	ENSP00000410980.2:n.*592T>C
ENST00000318493.11:c.3041T>C	ENSP00000317272.6:p.Val1014Ala
ENST00000397752.8:c.2987T>C MANE Select	ENSP00000380860.3:p.Val996Ala
ENST00000318493.10:c.3041T>C	ENSP00000317272.6:p.Val1014Ala
ENST00000397752.7:c.2987T>C	ENSP00000380860.3:p.Val996Ala
ENST00000454623.1:c.283+294T>C	ENSP00000398140.1:n.283+294T>C
NM_000245.2:c.2987T>C	NP_000236.2:p.Val996Ala
NM_001127500.1:c.3041T>C , LRG_662t1:c.3041T>C	NP_001120972.1:p.Val1014Ala
XM_006715990.2:c.1697T>C	XP_006716053.1:p.Val566Ala
XM_006715991.2:c.1697T>C	XP_006716054.1:p.Val566Ala
XM_011516223.1:c.3044T>C	XP_011514525.1:p.Val1015Ala
NM_000245.3:c.2987T>C	NP_000236.2:p.Val996Ala
NM_001127500.2:c.3041T>C	NP_001120972.1:p.Val1014Ala
NM_001324402.1:c.1697T>C	NP_001311331.1:p.Val566Ala
XR_001744772.1:n.3118T>C
NM_001127500.3:c.3041T>C	NP_001120972.1:p.Val1014Ala
NM_000245.4:c.2987T>C MANE Select	NP_000236.2:p.Val996Ala
NM_001324402.2:c.1697T>C	NP_001311331.1:p.Val566Ala