Canonical Allele Identifier: CA368987163

Gene: MET

Linked Data

• dbSNP Id: rs2116996614
• COSMIC: COSM4946456
• MyVariant Identifiers: chr7:g.116411963T>A (hg19) ; chr7:g.116771909T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771909T>A , CM000669.2:g.116771909T>A	GRCh38
NC_000007.13:g.116411963T>A , CM000669.1:g.116411963T>A	GRCh37
NC_000007.12:g.116199199T>A	NCBI36
NG_008996.1:g.104505T>A , LRG_662:g.104505T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*553T>A	ENSP00000410980.2:n.*553T>A
ENST00000318493.11:c.3002T>A	ENSP00000317272.6:p.Leu1001His
ENST00000397752.8:c.2948T>A MANE Select	ENSP00000380860.3:p.Leu983His
ENST00000318493.10:c.3002T>A	ENSP00000317272.6:p.Leu1001His
ENST00000397752.7:c.2948T>A	ENSP00000380860.3:p.Leu983His
ENST00000454623.1:c.283+255T>A	ENSP00000398140.1:n.283+255T>A
NM_000245.2:c.2948T>A	NP_000236.2:p.Leu983His
NM_001127500.1:c.3002T>A , LRG_662t1:c.3002T>A	NP_001120972.1:p.Leu1001His
XM_006715990.2:c.1658T>A	XP_006716053.1:p.Leu553His
XM_006715991.2:c.1658T>A	XP_006716054.1:p.Leu553His
XM_011516223.1:c.3005T>A	XP_011514525.1:p.Leu1002His
NM_000245.3:c.2948T>A	NP_000236.2:p.Leu983His
NM_001127500.2:c.3002T>A	NP_001120972.1:p.Leu1001His
NM_001324402.1:c.1658T>A	NP_001311331.1:p.Leu553His
XR_001744772.1:n.3079T>A
NM_001127500.3:c.3002T>A	NP_001120972.1:p.Leu1001His
NM_000245.4:c.2948T>A MANE Select	NP_000236.2:p.Leu983His
NM_001324402.2:c.1658T>A	NP_001311331.1:p.Leu553His