Canonical Allele Identifier: CA256997

Gene: MET

Linked Data

• ClinVar Variation Id: 13883
• ClinVar RCV Id: RCV000014897 ; RCV000221989 ; RCV001579843 ; RCV001376555
• dbSNP Id: rs121913670
• gnomAD v4: 7-116783329-G-A
• COSMIC: COSM1673476
• MyVariant Identifiers: chr7:g.116423383G>A (hg19) ; chr7:g.116783329G>A (hg38)
• PubMed: PMID:9140397 ; PMID:9326629 ; PMID:10327054 ; PMID:24061647 ; PMID:24121490

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783329G>A , CM000669.2:g.116783329G>A	GRCh38
NC_000007.13:g.116423383G>A , CM000669.1:g.116423383G>A	GRCh37
NC_000007.12:g.116210619G>A	NCBI36
NG_008996.1:g.115925G>A , LRG_662:g.115925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*1263G>A	ENSP00000410980.2:n.*1263G>A
ENST00000318493.11:c.3712G>A	ENSP00000317272.6:p.Val1238Ile
ENST00000397752.8:c.3658G>A MANE Select	ENSP00000380860.3:p.Val1220Ile
ENST00000318493.10:c.3712G>A	ENSP00000317272.6:p.Val1238Ile
ENST00000397752.7:c.3658G>A	ENSP00000380860.3:p.Val1220Ile
NM_000245.2:c.3658G>A	NP_000236.2:p.Val1220Ile
NM_001127500.1:c.3712G>A , LRG_662t1:c.3712G>A	NP_001120972.1:p.Val1238Ile
XM_006715990.2:c.2368G>A	XP_006716053.1:p.Val790Ile
XM_006715991.2:c.2368G>A	XP_006716054.1:p.Val790Ile
XM_011516223.1:c.3715G>A	XP_011514525.1:p.Val1239Ile
NM_000245.3:c.3658G>A	NP_000236.2:p.Val1220Ile
NM_001127500.2:c.3712G>A	NP_001120972.1:p.Val1238Ile
NM_001324402.1:c.2368G>A	NP_001311331.1:p.Val790Ile
XR_001744772.1:n.3789G>A
NM_001127500.3:c.3712G>A	NP_001120972.1:p.Val1238Ile
NM_000245.4:c.3658G>A MANE Select	NP_000236.2:p.Val1220Ile
NM_001324402.2:c.2368G>A	NP_001311331.1:p.Val790Ile