Canonical Allele Identifier: CA368991796

Gene: MET

Linked Data

• ClinVar Variation Id: 1420031
• ClinVar RCV Id: RCV001913968
• dbSNP Id: rs121913677
• gnomAD v3: 7-116783402-A-C
• gnomAD v4: 7-116783402-A-C
• MyVariant Identifiers: chr7:g.116423456A>C (hg19) ; chr7:g.116783402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116783402A>C , CM000669.2:g.116783402A>C	GRCh38
NC_000007.13:g.116423456A>C , CM000669.1:g.116423456A>C	GRCh37
NC_000007.12:g.116210692A>C	NCBI36
NG_008996.1:g.115998A>C , LRG_662:g.115998A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436117.3:c.*1336A>C	ENSP00000410980.2:n.*1336A>C
ENST00000318493.11:c.3785A>C	ENSP00000317272.6:p.Lys1262Thr
ENST00000397752.8:c.3731A>C MANE Select	ENSP00000380860.3:p.Lys1244Thr
ENST00000318493.10:c.3785A>C	ENSP00000317272.6:p.Lys1262Thr
ENST00000397752.7:c.3731A>C	ENSP00000380860.3:p.Lys1244Thr
NM_000245.2:c.3731A>C	NP_000236.2:p.Lys1244Thr
NM_001127500.1:c.3785A>C , LRG_662t1:c.3785A>C	NP_001120972.1:p.Lys1262Thr
XM_006715990.2:c.2441A>C	XP_006716053.1:p.Lys814Thr
XM_006715991.2:c.2441A>C	XP_006716054.1:p.Lys814Thr
XM_011516223.1:c.3788A>C	XP_011514525.1:p.Lys1263Thr
NM_000245.3:c.3731A>C	NP_000236.2:p.Lys1244Thr
NM_001127500.2:c.3785A>C	NP_001120972.1:p.Lys1262Thr
NM_001324402.1:c.2441A>C	NP_001311331.1:p.Lys814Thr
XR_001744772.1:n.3862A>C
NM_001127500.3:c.3785A>C	NP_001120972.1:p.Lys1262Thr
NM_000245.4:c.3731A>C MANE Select	NP_000236.2:p.Lys1244Thr
NM_001324402.2:c.2441A>C	NP_001311331.1:p.Lys814Thr