Canonical Allele Identifier: CA457447606
Gene: MET HGNC NCBI

Linked Data

ClinVar Variation Id: 2719560
ClinVar RCV Id: RCV003595279
dbSNP Id: rs2116997402
MyVariant Identifiers: chr7:g.116412018A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116771964A>T , CM000669.2:g.116771964A>T GRCh38
NC_000007.13:g.116412018A>T , CM000669.1:g.116412018A>T GRCh37
NC_000007.12:g.116199254A>T NCBI36
NG_008996.1:g.104560A>T , LRG_662:g.104560A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000436117.3:c.*608A>T ENSP00000410980.2:n.*608A>T
ENST00000318493.11:c.3057A>T ENSP00000317272.6:p.Val1019=
ENST00000397752.8:c.3003A>T MANE Select ENSP00000380860.3:p.Val1001=
ENST00000318493.10:c.3057A>T ENSP00000317272.6:p.Val1019=
ENST00000397752.7:c.3003A>T ENSP00000380860.3:p.Val1001=
ENST00000454623.1:c.283+310A>T ENSP00000398140.1:n.283+310A>T
NM_000245.2:c.3003A>T NP_000236.2:p.Val1001=
NM_001127500.1:c.3057A>T , LRG_662t1:c.3057A>T NP_001120972.1:p.Val1019=
XM_006715990.2:c.1713A>T XP_006716053.1:p.Val571=
XM_006715991.2:c.1713A>T XP_006716054.1:p.Val571=
XM_011516223.1:c.3060A>T XP_011514525.1:p.Val1020=
NM_000245.3:c.3003A>T NP_000236.2:p.Val1001=
NM_001127500.2:c.3057A>T NP_001120972.1:p.Val1019=
NM_001324402.1:c.1713A>T NP_001311331.1:p.Val571=
XR_001744772.1:n.3134A>T
NM_001127500.3:c.3057A>T NP_001120972.1:p.Val1019=
NM_000245.4:c.3003A>T MANE Select NP_000236.2:p.Val1001=
NM_001324402.2:c.1713A>T NP_001311331.1:p.Val571=