Canonical Allele Identifier: CA346761374

Linked Data

dbSNP Id: rs2104557891

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806530T>A , CM000664.2:g.47806530T>A GRCh38
NC_000002.11:g.48033669T>A , CM000664.1:g.48033669T>A GRCh37
NC_000002.10:g.47887173T>A NCBI36
NG_007111.1:g.28384T>A , LRG_219:g.28384T>A
NG_008397.1:g.104146A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3583T>A (MSH6) ENSP00000406248.2:p.Cys1195Ser
ENST00000420813.6:c.3583T>A (MSH6) ENSP00000390382.2:p.Cys1195Ser
ENST00000455383.6:c.3583T>A (MSH6) ENSP00000397484.2:p.Cys1195Ser
ENST00000700004.2:c.3496T>A (MSH6) ENSP00000514752.2:p.Cys1166Ser
ENST00000699999.1:n.4554T>A (MSH6)
ENST00000700000.1:c.2314T>A (MSH6) ENSP00000514749.1:p.Cys772Ser
ENST00000700002.1:c.3886T>A (MSH6) ENSP00000514750.1:p.Cys1296Ser
ENST00000700003.1:c.1335T>A (MSH6) ENSP00000514751.1:n.1335T>A
ENST00000700004.1:c.2653T>A (MSH6) ENSP00000514752.1:p.Cys885Ser
ENST00000700005.1:n.2731T>A (MSH6)
ENST00000700006.1:n.5038T>A (MSH6)
ENST00000700007.1:n.2475T>A (MSH6)
ENST00000700008.1:n.2142T>A (MSH6)
ENST00000700009.1:n.2544T>A (MSH6)
ENST00000700010.1:n.1289T>A (MSH6)
ENST00000700011.1:n.3174T>A (MSH6)
ENST00000682451.1:n.4218A>T (FBXO11)
ENST00000684712.1:n.4480A>T (FBXO11)
ENST00000234420.11:c.3880T>A (MSH6) MANE Select ENSP00000234420.5:p.Cys1294Ser
ENST00000540021.6:c.3490T>A (MSH6) ENSP00000446475.1:p.Cys1164Ser
ENST00000652107.1:c.3583T>A (MSH6) ENSP00000498629.1:p.Cys1195Ser
ENST00000673637.1:c.3583T>A (MSH6) ENSP00000501310.1:p.Cys1195Ser
ENST00000234420.9:c.3880T>A (MSH6) ENSP00000234420.4:p.Cys1294Ser
ENST00000405808.5:c.169+1665A>T (FBXO11) ENSP00000385127.1:n.169+1665A>T
ENST00000434234.5:c.*124+1464A>T (FBXO11) ENSP00000402692.1:n.*124+1464A>T
ENST00000445503.5:c.*3227T>A (MSH6) ENSP00000405294.1:n.*3227T>A
ENST00000538136.1:c.2974T>A (MSH6) ENSP00000438580.1:p.Cys992Ser
ENST00000540021.5:c.3490T>A (MSH6) ENSP00000446475.1:p.Cys1164Ser
ENST00000614496.4:c.2974T>A (MSH6) ENSP00000477844.1:p.Cys992Ser
ENST00000622629.4:c.781T>A (MSH6) ENSP00000482078.1:p.Cys261Ser
NM_000179.2:c.3880T>A , LRG_219t1:c.3880T>A (MSH6) NP_000170.1:p.Cys1294Ser
NM_001281492.1:c.3490T>A (MSH6) NP_001268421.1:p.Cys1164Ser
NM_001281493.1:c.2974T>A (MSH6) NP_001268422.1:p.Cys992Ser
NM_001281494.1:c.2974T>A (MSH6) NP_001268423.1:p.Cys992Ser
XM_005264271.1:c.3583T>A (MSH6) XP_005264328.1:p.Cys1195Ser
XM_011532798.1:c.3697T>A (MSH6) XP_011531100.1:p.Cys1233Ser
XM_011532799.1:c.3583T>A (MSH6) XP_011531101.1:p.Cys1195Ser
XM_011532800.1:c.3583T>A (MSH6) XP_011531102.1:p.Cys1195Ser
XM_024452819.1:c.3973T>A (MSH6) XP_024308587.1:p.Cys1325Ser
XM_024452820.1:c.3790T>A (MSH6) XP_024308588.1:p.Cys1264Ser
XM_024452821.1:c.3676T>A (MSH6) XP_024308589.1:p.Cys1226Ser
XM_024452822.1:c.3067T>A (MSH6) XP_024308590.1:p.Cys1023Ser
NM_000179.3:c.3880T>A (MSH6) MANE Select NP_000170.1:p.Cys1294Ser
NM_001281492.2:c.3490T>A (MSH6) NP_001268421.1:p.Cys1164Ser
NM_001281493.2:c.2974T>A (MSH6) NP_001268422.1:p.Cys992Ser
NM_001281494.2:c.2974T>A (MSH6) NP_001268423.1:p.Cys992Ser