Canonical Allele Identifier: CA368986221
Gene: MET HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116771501A>C , CM000669.2:g.116771501A>C GRCh38
NC_000007.13:g.116411555A>C , CM000669.1:g.116411555A>C GRCh37
NC_000007.12:g.116198791A>C NCBI36
NG_008996.1:g.104097A>C , LRG_662:g.104097A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000436117.3:c.*339A>C ENSP00000410980.2:n.*339A>C
ENST00000318493.11:c.2788A>C ENSP00000317272.6:p.Lys930Gln
ENST00000397752.8:c.2734A>C MANE Select ENSP00000380860.3:p.Lys912Gln
ENST00000318493.10:c.2788A>C ENSP00000317272.6:p.Lys930Gln
ENST00000397752.7:c.2734A>C ENSP00000380860.3:p.Lys912Gln
ENST00000454623.1:c.130A>C ENSP00000398140.1:p.Lys44Gln
NM_000245.2:c.2734A>C NP_000236.2:p.Lys912Gln
NM_001127500.1:c.2788A>C , LRG_662t1:c.2788A>C NP_001120972.1:p.Lys930Gln
XM_006715990.2:c.1444A>C XP_006716053.1:p.Lys482Gln
XM_006715991.2:c.1444A>C XP_006716054.1:p.Lys482Gln
XM_011516223.1:c.2791A>C XP_011514525.1:p.Lys931Gln
NM_000245.3:c.2734A>C NP_000236.2:p.Lys912Gln
NM_001127500.2:c.2788A>C NP_001120972.1:p.Lys930Gln
NM_001324402.1:c.1444A>C NP_001311331.1:p.Lys482Gln
XR_001744772.1:n.2865A>C
NM_001127500.3:c.2788A>C NP_001120972.1:p.Lys930Gln
NM_000245.4:c.2734A>C MANE Select NP_000236.2:p.Lys912Gln
NM_001324402.2:c.1444A>C NP_001311331.1:p.Lys482Gln