Canonical Allele Identifier: CA368982027

Gene: MET

Linked Data

• ClinVar Variation Id: 1061371
• ClinVar RCV Id: RCV001370941 ; RCV002465868 ; RCV002447489
• dbSNP Id: rs1060503541
• gnomAD v4: 7-116759411-G-A
• MyVariant Identifiers: chr7:g.116399465G>A (hg19) ; chr7:g.116759411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759411G>A , CM000669.2:g.116759411G>A	GRCh38
NC_000007.13:g.116399465G>A , CM000669.1:g.116399465G>A	GRCh37
NC_000007.12:g.116186701G>A	NCBI36
NG_008996.1:g.92007G>A , LRG_662:g.92007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2285G>A	ENSP00000398776.2:p.Gly762Asp
ENST00000436117.3:c.2264+791G>A	ENSP00000410980.2:n.2264+791G>A
ENST00000318493.11:c.2339G>A	ENSP00000317272.6:p.Gly780Asp
ENST00000397752.8:c.2285G>A MANE Select	ENSP00000380860.3:p.Gly762Asp
ENST00000318493.10:c.2339G>A	ENSP00000317272.6:p.Gly780Asp
ENST00000397752.7:c.2285G>A	ENSP00000380860.3:p.Gly762Asp
ENST00000422097.1:c.125G>A	ENSP00000398776.1:p.Gly42Asp
ENST00000436117.2:c.2264+791G>A	ENSP00000410980.2:n.2264+791G>A
NM_000245.2:c.2285G>A	NP_000236.2:p.Gly762Asp
NM_001127500.1:c.2339G>A , LRG_662t1:c.2339G>A	NP_001120972.1:p.Gly780Asp
XM_006715990.2:c.995G>A	XP_006716053.1:p.Gly332Asp
XM_006715991.2:c.995G>A	XP_006716054.1:p.Gly332Asp
XM_011516223.1:c.2342G>A	XP_011514525.1:p.Gly781Asp
NM_000245.3:c.2285G>A	NP_000236.2:p.Gly762Asp
NM_001127500.2:c.2339G>A	NP_001120972.1:p.Gly780Asp
NM_001324401.1:c.2285G>A	NP_001311330.1:p.Gly762Asp
NM_001324402.1:c.995G>A	NP_001311331.1:p.Gly332Asp
XR_001744772.1:n.2495+791G>A
NM_001127500.3:c.2339G>A	NP_001120972.1:p.Gly780Asp
NM_000245.4:c.2285G>A MANE Select	NP_000236.2:p.Gly762Asp
NM_001324401.2:c.2285G>A	NP_001311330.1:p.Gly762Asp
NM_001324402.2:c.995G>A	NP_001311331.1:p.Gly332Asp
NM_001324401.3:c.2285G>A	NP_001311330.1:p.Gly762Asp