Canonical Allele Identifier: CA160417

Gene: MET

Linked Data

• ClinVar Variation Id: 41624
• ClinVar RCV Id: RCV001507182 ; RCV002227927 ; RCV003891465
• dbSNP Id: rs56391007
• ExAC: 7:116411990 C / T
• gnomAD v2: 7-116411990-C-T
• gnomAD v3: 7-116771936-C-T
• gnomAD v4: 7-116771936-C-T
• COSMIC: COSM707
• MyVariant Identifiers: chr7:g.116411990C>T (hg19) ; chr7:g.116771936C>T (hg38)
• PubMed: PMID:1104268 ; PMID:14559814 ; PMID:17483355 ; PMID:22703879 ; PMID:24728327 ; PMID:25605252 ; PMID:25736269 ; PMID:25859546

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771936C>T , CM000669.2:g.116771936C>T	GRCh38
NC_000007.13:g.116411990C>T , CM000669.1:g.116411990C>T	GRCh37
NC_000007.12:g.116199226C>T	NCBI36
NG_008996.1:g.104532C>T , LRG_662:g.104532C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436117.3:c.*580C>T	ENSP00000410980.2:n.*580C>T
ENST00000318493.11:c.3029C>T	ENSP00000317272.6:p.Thr1010Ile
ENST00000397752.8:c.2975C>T MANE Select	ENSP00000380860.3:p.Thr992Ile
ENST00000318493.10:c.3029C>T	ENSP00000317272.6:p.Thr1010Ile
ENST00000397752.7:c.2975C>T	ENSP00000380860.3:p.Thr992Ile
ENST00000454623.1:c.283+282C>T	ENSP00000398140.1:n.283+282C>T
NM_000245.2:c.2975C>T	NP_000236.2:p.Thr992Ile
NM_001127500.1:c.3029C>T , LRG_662t1:c.3029C>T	NP_001120972.1:p.Thr1010Ile
XM_006715990.2:c.1685C>T	XP_006716053.1:p.Thr562Ile
XM_006715991.2:c.1685C>T	XP_006716054.1:p.Thr562Ile
XM_011516223.1:c.3032C>T	XP_011514525.1:p.Thr1011Ile
NM_000245.3:c.2975C>T	NP_000236.2:p.Thr992Ile
NM_001127500.2:c.3029C>T	NP_001120972.1:p.Thr1010Ile
NM_001324402.1:c.1685C>T	NP_001311331.1:p.Thr562Ile
XR_001744772.1:n.3106C>T
NM_001127500.3:c.3029C>T	NP_001120972.1:p.Thr1010Ile
NM_000245.4:c.2975C>T MANE Select	NP_000236.2:p.Thr992Ile
NM_001324402.2:c.1685C>T	NP_001311331.1:p.Thr562Ile