Canonical Allele Identifier: CA4448620

Gene: MET

Linked Data

• ClinVar Variation Id: 411908
• ClinVar RCV Id: RCV000470541 ; RCV001018162 ; RCV002291639 ; RCV001837917
• dbSNP Id: rs774433287
• ExAC: 7:116411989 A / G
• gnomAD v2: 7-116411989-A-G
• gnomAD v3: 7-116771935-A-G
• gnomAD v4: 7-116771935-A-G
• MyVariant Identifiers: chr7:g.116411989A>G (hg19) ; chr7:g.116771935A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771935A>G , CM000669.2:g.116771935A>G	GRCh38
NC_000007.13:g.116411989A>G , CM000669.1:g.116411989A>G	GRCh37
NC_000007.12:g.116199225A>G	NCBI36
NG_008996.1:g.104531A>G , LRG_662:g.104531A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*579A>G	ENSP00000410980.2:n.*579A>G
ENST00000318493.11:c.3028A>G	ENSP00000317272.6:p.Thr1010Ala
ENST00000397752.8:c.2974A>G MANE Select	ENSP00000380860.3:p.Thr992Ala
ENST00000318493.10:c.3028A>G	ENSP00000317272.6:p.Thr1010Ala
ENST00000397752.7:c.2974A>G	ENSP00000380860.3:p.Thr992Ala
ENST00000454623.1:c.283+281A>G	ENSP00000398140.1:n.283+281A>G
NM_000245.2:c.2974A>G	NP_000236.2:p.Thr992Ala
NM_001127500.1:c.3028A>G , LRG_662t1:c.3028A>G	NP_001120972.1:p.Thr1010Ala
XM_006715990.2:c.1684A>G	XP_006716053.1:p.Thr562Ala
XM_006715991.2:c.1684A>G	XP_006716054.1:p.Thr562Ala
XM_011516223.1:c.3031A>G	XP_011514525.1:p.Thr1011Ala
NM_000245.3:c.2974A>G	NP_000236.2:p.Thr992Ala
NM_001127500.2:c.3028A>G	NP_001120972.1:p.Thr1010Ala
NM_001324402.1:c.1684A>G	NP_001311331.1:p.Thr562Ala
XR_001744772.1:n.3105A>G
NM_001127500.3:c.3028A>G	NP_001120972.1:p.Thr1010Ala
NM_000245.4:c.2974A>G MANE Select	NP_000236.2:p.Thr992Ala
NM_001324402.2:c.1684A>G	NP_001311331.1:p.Thr562Ala