Canonical Allele Identifier: CA457219483

Gene: MET

Linked Data

• ClinVar Variation Id: 1126839
• ClinVar RCV Id: RCV001459009 ; RCV002350931
• dbSNP Id: rs2117066669
• gnomAD v4: 7-116783397-T-A
• MyVariant Identifiers: chr7:g.116423451T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783397T>A , CM000669.2:g.116783397T>A	GRCh38
NC_000007.13:g.116423451T>A , CM000669.1:g.116423451T>A	GRCh37
NC_000007.12:g.116210687T>A	NCBI36
NG_008996.1:g.115993T>A , LRG_662:g.115993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*1331T>A	ENSP00000410980.2:n.*1331T>A
ENST00000318493.11:c.3780T>A	ENSP00000317272.6:p.Gly1260=
ENST00000397752.8:c.3726T>A MANE Select	ENSP00000380860.3:p.Gly1242=
ENST00000318493.10:c.3780T>A	ENSP00000317272.6:p.Gly1260=
ENST00000397752.7:c.3726T>A	ENSP00000380860.3:p.Gly1242=
NM_000245.2:c.3726T>A	NP_000236.2:p.Gly1242=
NM_001127500.1:c.3780T>A , LRG_662t1:c.3780T>A	NP_001120972.1:p.Gly1260=
XM_006715990.2:c.2436T>A	XP_006716053.1:p.Gly812=
XM_006715991.2:c.2436T>A	XP_006716054.1:p.Gly812=
XM_011516223.1:c.3783T>A	XP_011514525.1:p.Gly1261=
NM_000245.3:c.3726T>A	NP_000236.2:p.Gly1242=
NM_001127500.2:c.3780T>A	NP_001120972.1:p.Gly1260=
NM_001324402.1:c.2436T>A	NP_001311331.1:p.Gly812=
XR_001744772.1:n.3857T>A
NM_001127500.3:c.3780T>A	NP_001120972.1:p.Gly1260=
NM_000245.4:c.3726T>A MANE Select	NP_000236.2:p.Gly1242=
NM_001324402.2:c.2436T>A	NP_001311331.1:p.Gly812=