Canonical Allele Identifier: CA346760155

Linked Data

dbSNP Id: rs2104506872

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804965G>C , CM000664.2:g.47804965G>C GRCh38
NC_000002.11:g.48032104G>C , CM000664.1:g.48032104G>C GRCh37
NC_000002.10:g.47885608G>C NCBI36
NG_007111.1:g.26819G>C , LRG_219:g.26819G>C
NG_008397.1:g.105711C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3197G>C (MSH6) ENSP00000406248.2:p.Cys1066Ser
ENST00000420813.6:c.3197G>C (MSH6) ENSP00000390382.2:p.Cys1066Ser
ENST00000455383.6:c.3197G>C (MSH6) ENSP00000397484.2:p.Cys1066Ser
ENST00000700004.2:c.3173-653G>C (MSH6) ENSP00000514752.2:n.3173-653G>C
ENST00000699999.1:n.3578G>C (MSH6)
ENST00000700000.1:c.1928G>C (MSH6) ENSP00000514749.1:p.Cys643Ser
ENST00000700002.1:c.3500G>C (MSH6) ENSP00000514750.1:p.Cys1167Ser
ENST00000700003.1:c.949G>C (MSH6) ENSP00000514751.1:n.949G>C
ENST00000700004.1:c.2330-653G>C (MSH6) ENSP00000514752.1:n.2330-653G>C
ENST00000700005.1:n.2345G>C (MSH6)
ENST00000700006.1:n.3566G>C (MSH6)
ENST00000700007.1:n.1499G>C (MSH6)
ENST00000700008.1:n.1073G>C (MSH6)
ENST00000700009.1:n.1072G>C (MSH6)
ENST00000700010.1:n.903G>C (MSH6)
ENST00000700011.1:n.2198G>C (MSH6)
ENST00000234420.11:c.3494G>C (MSH6) MANE Select ENSP00000234420.5:p.Cys1165Ser
ENST00000540021.6:c.3104G>C (MSH6) ENSP00000446475.1:p.Cys1035Ser
ENST00000652107.1:c.3197G>C (MSH6) ENSP00000498629.1:p.Cys1066Ser
ENST00000673637.1:c.3197G>C (MSH6) ENSP00000501310.1:p.Cys1066Ser
ENST00000234420.9:c.3494G>C (MSH6) ENSP00000234420.4:p.Cys1165Ser
ENST00000405808.5:c.169+3230C>G (FBXO11) ENSP00000385127.1:n.169+3230C>G
ENST00000434234.5:c.*124+3029C>G (FBXO11) ENSP00000402692.1:n.*124+3029C>G
ENST00000445503.5:c.*2841G>C (MSH6) ENSP00000405294.1:n.*2841G>C
ENST00000538136.1:c.2588G>C (MSH6) ENSP00000438580.1:p.Cys863Ser
ENST00000540021.5:c.3104G>C (MSH6) ENSP00000446475.1:p.Cys1035Ser
ENST00000614496.4:c.2588G>C (MSH6) ENSP00000477844.1:p.Cys863Ser
ENST00000622629.4:c.398G>C (MSH6) ENSP00000482078.1:p.Cys133Ser
NM_000179.2:c.3494G>C , LRG_219t1:c.3494G>C (MSH6) NP_000170.1:p.Cys1165Ser
NM_001281492.1:c.3104G>C (MSH6) NP_001268421.1:p.Cys1035Ser
NM_001281493.1:c.2588G>C (MSH6) NP_001268422.1:p.Cys863Ser
NM_001281494.1:c.2588G>C (MSH6) NP_001268423.1:p.Cys863Ser
XM_005264271.1:c.3197G>C (MSH6) XP_005264328.1:p.Cys1066Ser
XM_011532798.1:c.3311G>C (MSH6) XP_011531100.1:p.Cys1104Ser
XM_011532799.1:c.3197G>C (MSH6) XP_011531101.1:p.Cys1066Ser
XM_011532800.1:c.3197G>C (MSH6) XP_011531102.1:p.Cys1066Ser
XM_024452819.1:c.3494G>C (MSH6) XP_024308587.1:p.Cys1165Ser
XM_024452820.1:c.3311G>C (MSH6) XP_024308588.1:p.Cys1104Ser
XM_024452821.1:c.3197G>C (MSH6) XP_024308589.1:p.Cys1066Ser
XM_024452822.1:c.2588G>C (MSH6) XP_024308590.1:p.Cys863Ser
NM_000179.3:c.3494G>C (MSH6) MANE Select NP_000170.1:p.Cys1165Ser
NM_001281492.2:c.3104G>C (MSH6) NP_001268421.1:p.Cys1035Ser
NM_001281493.2:c.2588G>C (MSH6) NP_001268422.1:p.Cys863Ser
NM_001281494.2:c.2588G>C (MSH6) NP_001268423.1:p.Cys863Ser