Canonical Allele Identifier: CA193972

Gene: MET

Linked Data

• ClinVar Variation Id: 186141
• ClinVar RCV Id: RCV000165679 ; RCV000443267 ; RCV000425188 ; RCV000709041 ; RCV001376633
• dbSNP Id: rs786202724
• gnomAD v2: 7-116417457-G-A
• gnomAD v3: 7-116777403-G-A
• gnomAD v4: 7-116777403-G-A
• COSMIC: COSM3724572
• MyVariant Identifiers: chr7:g.116417457G>A (hg19) ; chr7:g.116777403G>A (hg38)
• PubMed: PMID:10417759 ; PMID:10433944 ; PMID:11354004 ; PMID:11927612 ; PMID:15371818 ; PMID:17483355 ; PMID:24061647

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116777403G>A , CM000669.2:g.116777403G>A	GRCh38
NC_000007.13:g.116417457G>A , CM000669.1:g.116417457G>A	GRCh37
NC_000007.12:g.116204693G>A	NCBI36
NG_008996.1:g.109999G>A , LRG_662:g.109999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*879G>A	ENSP00000410980.2:n.*879G>A
ENST00000318493.11:c.3328G>A	ENSP00000317272.6:p.Val1110Ile
ENST00000397752.8:c.3274G>A MANE Select	ENSP00000380860.3:p.Val1092Ile
ENST00000318493.10:c.3328G>A	ENSP00000317272.6:p.Val1110Ile
ENST00000397752.7:c.3274G>A	ENSP00000380860.3:p.Val1092Ile
NM_000245.2:c.3274G>A	NP_000236.2:p.Val1092Ile
NM_001127500.1:c.3328G>A , LRG_662t1:c.3328G>A	NP_001120972.1:p.Val1110Ile
XM_006715990.2:c.1984G>A	XP_006716053.1:p.Val662Ile
XM_006715991.2:c.1984G>A	XP_006716054.1:p.Val662Ile
XM_011516223.1:c.3331G>A	XP_011514525.1:p.Val1111Ile
NM_000245.3:c.3274G>A	NP_000236.2:p.Val1092Ile
NM_001127500.2:c.3328G>A	NP_001120972.1:p.Val1110Ile
NM_001324402.1:c.1984G>A	NP_001311331.1:p.Val662Ile
XR_001744772.1:n.3405G>A
NM_001127500.3:c.3328G>A	NP_001120972.1:p.Val1110Ile
NM_000245.4:c.3274G>A MANE Select	NP_000236.2:p.Val1092Ile
NM_001324402.2:c.1984G>A	NP_001311331.1:p.Val662Ile