Canonical Allele Identifier: CA346758768

Linked Data

dbSNP Id: rs876661138

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803603A>T , CM000664.2:g.47803603A>T GRCh38
NC_000002.11:g.48030742A>T , CM000664.1:g.48030742A>T GRCh37
NC_000002.10:g.47884246A>T NCBI36
NG_007111.1:g.25457A>T , LRG_219:g.25457A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3059A>T (MSH6) ENSP00000406248.2:p.Glu1020Val
ENST00000420813.6:c.3059A>T (MSH6) ENSP00000390382.2:p.Glu1020Val
ENST00000455383.6:c.3059A>T (MSH6) ENSP00000397484.2:p.Glu1020Val
ENST00000700004.2:c.3173-2015A>T (MSH6) ENSP00000514752.2:n.3173-2015A>T
ENST00000699999.1:n.3440A>T (MSH6)
ENST00000700000.1:c.1790A>T (MSH6) ENSP00000514749.1:p.Glu597Val
ENST00000700002.1:c.3362A>T (MSH6) ENSP00000514750.1:p.Glu1121Val
ENST00000700003.1:c.811A>T (MSH6) ENSP00000514751.1:n.811A>T
ENST00000700004.1:c.2330-2015A>T (MSH6) ENSP00000514752.1:n.2330-2015A>T
ENST00000700005.1:n.2207A>T (MSH6)
ENST00000700006.1:n.2204A>T (MSH6)
ENST00000700007.1:n.1361A>T (MSH6)
ENST00000700008.1:n.935A>T (MSH6)
ENST00000700009.1:n.934A>T (MSH6)
ENST00000700010.1:n.765A>T (MSH6)
ENST00000700011.1:n.836A>T (MSH6)
ENST00000234420.11:c.3356A>T (MSH6) MANE Select ENSP00000234420.5:p.Glu1119Val
ENST00000540021.6:c.2966A>T (MSH6) ENSP00000446475.1:p.Glu989Val
ENST00000652107.1:c.3059A>T (MSH6) ENSP00000498629.1:p.Glu1020Val
ENST00000673637.1:c.3059A>T (MSH6) ENSP00000501310.1:p.Glu1020Val
ENST00000234420.9:c.3356A>T (MSH6) ENSP00000234420.4:p.Glu1119Val
ENST00000405808.5:c.169+4592T>A (FBXO11) ENSP00000385127.1:n.169+4592T>A
ENST00000434234.5:c.*124+4391T>A (FBXO11) ENSP00000402692.1:n.*124+4391T>A
ENST00000445503.5:c.*2703A>T (MSH6) ENSP00000405294.1:n.*2703A>T
ENST00000538136.1:c.2450A>T (MSH6) ENSP00000438580.1:p.Glu817Val
ENST00000540021.5:c.2966A>T (MSH6) ENSP00000446475.1:p.Glu989Val
ENST00000614496.4:c.2450A>T (MSH6) ENSP00000477844.1:p.Glu817Val
ENST00000622629.4:c.260A>T (MSH6) ENSP00000482078.1:p.Glu87Val
NM_000179.2:c.3356A>T , LRG_219t1:c.3356A>T (MSH6) NP_000170.1:p.Glu1119Val
NM_001281492.1:c.2966A>T (MSH6) NP_001268421.1:p.Glu989Val
NM_001281493.1:c.2450A>T (MSH6) NP_001268422.1:p.Glu817Val
NM_001281494.1:c.2450A>T (MSH6) NP_001268423.1:p.Glu817Val
XM_005264271.1:c.3059A>T (MSH6) XP_005264328.1:p.Glu1020Val
XM_011532798.1:c.3173A>T (MSH6) XP_011531100.1:p.Glu1058Val
XM_011532799.1:c.3059A>T (MSH6) XP_011531101.1:p.Glu1020Val
XM_011532800.1:c.3059A>T (MSH6) XP_011531102.1:p.Glu1020Val
XM_024452819.1:c.3356A>T (MSH6) XP_024308587.1:p.Glu1119Val
XM_024452820.1:c.3173A>T (MSH6) XP_024308588.1:p.Glu1058Val
XM_024452821.1:c.3059A>T (MSH6) XP_024308589.1:p.Glu1020Val
XM_024452822.1:c.2450A>T (MSH6) XP_024308590.1:p.Glu817Val
NM_000179.3:c.3356A>T (MSH6) MANE Select NP_000170.1:p.Glu1119Val
NM_001281492.2:c.2966A>T (MSH6) NP_001268421.1:p.Glu989Val
NM_001281493.2:c.2450A>T (MSH6) NP_001268422.1:p.Glu817Val
NM_001281494.2:c.2450A>T (MSH6) NP_001268423.1:p.Glu817Val