Canonical Allele Identifier: CA346734861
Gene: MSH6 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783349G>T , CM000664.2:g.47783349G>T GRCh38
NC_000002.11:g.48010488G>T , CM000664.1:g.48010488G>T GRCh37
NC_000002.10:g.47863992G>T NCBI36
NG_007111.1:g.5203G>T , LRG_219:g.5203G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.116G>T ENSP00000514752.2:p.Gly39Val
ENST00000699999.1:n.200G>T
ENST00000700000.1:c.116G>T ENSP00000514749.1:p.Gly39Val
ENST00000700001.1:n.188G>T
ENST00000700002.1:c.116G>T ENSP00000514750.1:p.Gly39Val
ENST00000700003.1:c.116G>T ENSP00000514751.1:p.Gly39Val
ENST00000234420.11:c.116G>T MANE Select ENSP00000234420.5:p.Gly39Val
ENST00000540021.6:c.116G>T ENSP00000446475.1:p.Gly39Val
ENST00000652107.1:c.-37-7578G>T ENSP00000498629.1:n.-37-7578G>T
ENST00000673637.1:c.-38+118G>T ENSP00000501310.1:n.-38+118G>T
ENST00000673922.1:n.205G>T
ENST00000234420.9:c.116G>T ENSP00000234420.4:p.Gly39Val
ENST00000445503.5:c.116G>T ENSP00000405294.1:p.Gly39Val
ENST00000456246.1:c.116G>T ENSP00000410570.1:p.Gly39Val
ENST00000493177.1:n.180G>T
ENST00000540021.5:c.116G>T ENSP00000446475.1:p.Gly39Val
ENST00000606499.1:c.-37-7578G>T ENSP00000475605.1:n.-37-7578G>T
ENST00000614496.4:c.-621G>T ENSP00000477844.1:n.-621G>T
ENST00000616033.4:c.114G>T ENSP00000480261.1:p.Arg38=
ENST00000622629.4:c.-2981G>T ENSP00000482078.1:n.-2981G>T
NM_000179.2:c.116G>T , LRG_219t1:c.116G>T NP_000170.1:p.Gly39Val
NM_001281492.1:c.116G>T NP_001268421.1:p.Gly39Val
NM_001281493.1:c.-621G>T NP_001268422.1:n.-621G>T
XM_011532800.1:c.-38+118G>T XP_011531102.1:n.-38+118G>T
XM_024452819.1:c.116G>T XP_024308587.1:p.Gly39Val
XM_024452822.1:c.-621G>T XP_024308590.1:n.-621G>T
NM_000179.3:c.116G>T MANE Select NP_000170.1:p.Gly39Val
NM_001281492.2:c.116G>T NP_001268421.1:p.Gly39Val
NM_001281493.2:c.-621G>T NP_001268422.1:n.-621G>T