Canonical Allele Identifier: CA346761123

Linked Data

dbSNP Id: rs2104545185

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806326T>A , CM000664.2:g.47806326T>A GRCh38
NC_000002.11:g.48033465T>A , CM000664.1:g.48033465T>A GRCh37
NC_000002.10:g.47886969T>A NCBI36
NG_007111.1:g.28180T>A , LRG_219:g.28180T>A
NG_008397.1:g.104350A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3472T>A (MSH6) ENSP00000406248.2:p.Ser1158Thr
ENST00000420813.6:c.3472T>A (MSH6) ENSP00000390382.2:p.Ser1158Thr
ENST00000455383.6:c.3472T>A (MSH6) ENSP00000397484.2:p.Ser1158Thr
ENST00000700004.2:c.3385T>A (MSH6) ENSP00000514752.2:p.Ser1129Thr
ENST00000699999.1:n.4443T>A (MSH6)
ENST00000700000.1:c.2203T>A (MSH6) ENSP00000514749.1:p.Ser735Thr
ENST00000700002.1:c.3775T>A (MSH6) ENSP00000514750.1:p.Ser1259Thr
ENST00000700003.1:c.1224T>A (MSH6) ENSP00000514751.1:n.1224T>A
ENST00000700004.1:c.2542T>A (MSH6) ENSP00000514752.1:p.Ser848Thr
ENST00000700005.1:n.2620T>A (MSH6)
ENST00000700006.1:n.4927T>A (MSH6)
ENST00000700007.1:n.2364T>A (MSH6)
ENST00000700008.1:n.1938T>A (MSH6)
ENST00000700009.1:n.2433T>A (MSH6)
ENST00000700010.1:n.1178T>A (MSH6)
ENST00000700011.1:n.3063T>A (MSH6)
ENST00000682451.1:n.4422A>T (FBXO11)
ENST00000684712.1:n.4684A>T (FBXO11)
ENST00000234420.11:c.3769T>A (MSH6) MANE Select ENSP00000234420.5:p.Ser1257Thr
ENST00000540021.6:c.3379T>A (MSH6) ENSP00000446475.1:p.Ser1127Thr
ENST00000652107.1:c.3472T>A (MSH6) ENSP00000498629.1:p.Ser1158Thr
ENST00000673637.1:c.3472T>A (MSH6) ENSP00000501310.1:p.Ser1158Thr
ENST00000234420.9:c.3769T>A (MSH6) ENSP00000234420.4:p.Ser1257Thr
ENST00000405808.5:c.169+1869A>T (FBXO11) ENSP00000385127.1:n.169+1869A>T
ENST00000434234.5:c.*124+1668A>T (FBXO11) ENSP00000402692.1:n.*124+1668A>T
ENST00000445503.5:c.*3116T>A (MSH6) ENSP00000405294.1:n.*3116T>A
ENST00000538136.1:c.2863T>A (MSH6) ENSP00000438580.1:p.Ser955Thr
ENST00000540021.5:c.3379T>A (MSH6) ENSP00000446475.1:p.Ser1127Thr
ENST00000614496.4:c.2863T>A (MSH6) ENSP00000477844.1:p.Ser955Thr
ENST00000622629.4:c.671T>A (MSH6) ENSP00000482078.1:p.Phe224Tyr
NM_000179.2:c.3769T>A , LRG_219t1:c.3769T>A (MSH6) NP_000170.1:p.Ser1257Thr
NM_001281492.1:c.3379T>A (MSH6) NP_001268421.1:p.Ser1127Thr
NM_001281493.1:c.2863T>A (MSH6) NP_001268422.1:p.Ser955Thr
NM_001281494.1:c.2863T>A (MSH6) NP_001268423.1:p.Ser955Thr
XM_005264271.1:c.3472T>A (MSH6) XP_005264328.1:p.Ser1158Thr
XM_011532798.1:c.3586T>A (MSH6) XP_011531100.1:p.Ser1196Thr
XM_011532799.1:c.3472T>A (MSH6) XP_011531101.1:p.Ser1158Thr
XM_011532800.1:c.3472T>A (MSH6) XP_011531102.1:p.Ser1158Thr
XM_024452819.1:c.3769T>A (MSH6) XP_024308587.1:p.Ser1257Thr
XM_024452820.1:c.3586T>A (MSH6) XP_024308588.1:p.Ser1196Thr
XM_024452821.1:c.3472T>A (MSH6) XP_024308589.1:p.Ser1158Thr
XM_024452822.1:c.2863T>A (MSH6) XP_024308590.1:p.Ser955Thr
NM_000179.3:c.3769T>A (MSH6) MANE Select NP_000170.1:p.Ser1257Thr
NM_001281492.2:c.3379T>A (MSH6) NP_001268421.1:p.Ser1127Thr
NM_001281493.2:c.2863T>A (MSH6) NP_001268422.1:p.Ser955Thr
NM_001281494.2:c.2863T>A (MSH6) NP_001268423.1:p.Ser955Thr