Canonical Allele Identifier: CA368982033

Gene: MET

Linked Data

• ClinVar Variation Id: 1421423
• ClinVar RCV Id: RCV001923766 ; RCV004044108
• dbSNP Id: rs2116937873
• gnomAD v4: 7-116759413-G-A
• MyVariant Identifiers: chr7:g.116399467G>A (hg19) ; chr7:g.116759413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759413G>A , CM000669.2:g.116759413G>A	GRCh38
NC_000007.13:g.116399467G>A , CM000669.1:g.116399467G>A	GRCh37
NC_000007.12:g.116186703G>A	NCBI36
NG_008996.1:g.92009G>A , LRG_662:g.92009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2287G>A	ENSP00000398776.2:p.Val763Ile
ENST00000436117.3:c.2264+793G>A	ENSP00000410980.2:n.2264+793G>A
ENST00000318493.11:c.2341G>A	ENSP00000317272.6:p.Val781Ile
ENST00000397752.8:c.2287G>A MANE Select	ENSP00000380860.3:p.Val763Ile
ENST00000318493.10:c.2341G>A	ENSP00000317272.6:p.Val781Ile
ENST00000397752.7:c.2287G>A	ENSP00000380860.3:p.Val763Ile
ENST00000422097.1:c.127G>A	ENSP00000398776.1:p.Val43Ile
ENST00000436117.2:c.2264+793G>A	ENSP00000410980.2:n.2264+793G>A
NM_000245.2:c.2287G>A	NP_000236.2:p.Val763Ile
NM_001127500.1:c.2341G>A , LRG_662t1:c.2341G>A	NP_001120972.1:p.Val781Ile
XM_006715990.2:c.997G>A	XP_006716053.1:p.Val333Ile
XM_006715991.2:c.997G>A	XP_006716054.1:p.Val333Ile
XM_011516223.1:c.2344G>A	XP_011514525.1:p.Val782Ile
NM_000245.3:c.2287G>A	NP_000236.2:p.Val763Ile
NM_001127500.2:c.2341G>A	NP_001120972.1:p.Val781Ile
NM_001324401.1:c.2287G>A	NP_001311330.1:p.Val763Ile
NM_001324402.1:c.997G>A	NP_001311331.1:p.Val333Ile
XR_001744772.1:n.2495+793G>A
NM_001127500.3:c.2341G>A	NP_001120972.1:p.Val781Ile
NM_000245.4:c.2287G>A MANE Select	NP_000236.2:p.Val763Ile
NM_001324401.2:c.2287G>A	NP_001311330.1:p.Val763Ile
NM_001324402.2:c.997G>A	NP_001311331.1:p.Val333Ile
NM_001324401.3:c.2287G>A	NP_001311330.1:p.Val763Ile