Canonical Allele Identifier: CA4448615

Gene: MET

Linked Data

• ClinVar Variation Id: 1504608
• ClinVar RCV Id: RCV002028928
• dbSNP Id: rs780819058
• ExAC: 7:116411927 A / G
• gnomAD v2: 7-116411927-A-G
• gnomAD v4: 7-116771873-A-G
• MyVariant Identifiers: chr7:g.116411927A>G (hg19) ; chr7:g.116771873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771873A>G , CM000669.2:g.116771873A>G	GRCh38
NC_000007.13:g.116411927A>G , CM000669.1:g.116411927A>G	GRCh37
NC_000007.12:g.116199163A>G	NCBI36
NG_008996.1:g.104469A>G , LRG_662:g.104469A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*517A>G	ENSP00000410980.2:n.*517A>G
ENST00000318493.11:c.2966A>G	ENSP00000317272.6:p.Tyr989Cys
ENST00000397752.8:c.2912A>G MANE Select	ENSP00000380860.3:p.Tyr971Cys
ENST00000318493.10:c.2966A>G	ENSP00000317272.6:p.Tyr989Cys
ENST00000397752.7:c.2912A>G	ENSP00000380860.3:p.Tyr971Cys
ENST00000454623.1:c.283+219A>G	ENSP00000398140.1:n.283+219A>G
NM_000245.2:c.2912A>G	NP_000236.2:p.Tyr971Cys
NM_001127500.1:c.2966A>G , LRG_662t1:c.2966A>G	NP_001120972.1:p.Tyr989Cys
XM_006715990.2:c.1622A>G	XP_006716053.1:p.Tyr541Cys
XM_006715991.2:c.1622A>G	XP_006716054.1:p.Tyr541Cys
XM_011516223.1:c.2969A>G	XP_011514525.1:p.Tyr990Cys
NM_000245.3:c.2912A>G	NP_000236.2:p.Tyr971Cys
NM_001127500.2:c.2966A>G	NP_001120972.1:p.Tyr989Cys
NM_001324402.1:c.1622A>G	NP_001311331.1:p.Tyr541Cys
XR_001744772.1:n.3043A>G
NM_001127500.3:c.2966A>G	NP_001120972.1:p.Tyr989Cys
NM_000245.4:c.2912A>G MANE Select	NP_000236.2:p.Tyr971Cys
NM_001324402.2:c.1622A>G	NP_001311331.1:p.Tyr541Cys