Canonical Allele Identifier: CA346761403

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806543A>C , CM000664.2:g.47806543A>C GRCh38
NC_000002.11:g.48033682A>C , CM000664.1:g.48033682A>C GRCh37
NC_000002.10:g.47887186A>C NCBI36
NG_007111.1:g.28397A>C , LRG_219:g.28397A>C
NG_008397.1:g.104133T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3596A>C (MSH6) ENSP00000406248.2:p.Tyr1199Ser
ENST00000420813.6:c.3596A>C (MSH6) ENSP00000390382.2:p.Tyr1199Ser
ENST00000455383.6:c.3596A>C (MSH6) ENSP00000397484.2:p.Tyr1199Ser
ENST00000700004.2:c.3509A>C (MSH6) ENSP00000514752.2:p.Tyr1170Ser
ENST00000699999.1:n.4567A>C (MSH6)
ENST00000700000.1:c.2327A>C (MSH6) ENSP00000514749.1:p.Tyr776Ser
ENST00000700002.1:c.3899A>C (MSH6) ENSP00000514750.1:p.Tyr1300Ser
ENST00000700003.1:c.1348A>C (MSH6) ENSP00000514751.1:n.1348A>C
ENST00000700004.1:c.2666A>C (MSH6) ENSP00000514752.1:p.Tyr889Ser
ENST00000700005.1:n.2744A>C (MSH6)
ENST00000700006.1:n.5051A>C (MSH6)
ENST00000700007.1:n.2488A>C (MSH6)
ENST00000700008.1:n.2155A>C (MSH6)
ENST00000700009.1:n.2557A>C (MSH6)
ENST00000700010.1:n.1302A>C (MSH6)
ENST00000700011.1:n.3187A>C (MSH6)
ENST00000682451.1:n.4205T>G (FBXO11)
ENST00000684712.1:n.4467T>G (FBXO11)
ENST00000234420.11:c.3893A>C (MSH6) MANE Select ENSP00000234420.5:p.Tyr1298Ser
ENST00000540021.6:c.3503A>C (MSH6) ENSP00000446475.1:p.Tyr1168Ser
ENST00000652107.1:c.3596A>C (MSH6) ENSP00000498629.1:p.Tyr1199Ser
ENST00000673637.1:c.3596A>C (MSH6) ENSP00000501310.1:p.Tyr1199Ser
ENST00000234420.9:c.3893A>C (MSH6) ENSP00000234420.4:p.Tyr1298Ser
ENST00000405808.5:c.169+1652T>G (FBXO11) ENSP00000385127.1:n.169+1652T>G
ENST00000434234.5:c.*124+1451T>G (FBXO11) ENSP00000402692.1:n.*124+1451T>G
ENST00000445503.5:c.*3240A>C (MSH6) ENSP00000405294.1:n.*3240A>C
ENST00000538136.1:c.2987A>C (MSH6) ENSP00000438580.1:p.Tyr996Ser
ENST00000540021.5:c.3503A>C (MSH6) ENSP00000446475.1:p.Tyr1168Ser
ENST00000614496.4:c.2987A>C (MSH6) ENSP00000477844.1:p.Tyr996Ser
ENST00000622629.4:c.794A>C (MSH6) ENSP00000482078.1:p.Tyr265Ser
NM_000179.2:c.3893A>C , LRG_219t1:c.3893A>C (MSH6) NP_000170.1:p.Tyr1298Ser
NM_001281492.1:c.3503A>C (MSH6) NP_001268421.1:p.Tyr1168Ser
NM_001281493.1:c.2987A>C (MSH6) NP_001268422.1:p.Tyr996Ser
NM_001281494.1:c.2987A>C (MSH6) NP_001268423.1:p.Tyr996Ser
XM_005264271.1:c.3596A>C (MSH6) XP_005264328.1:p.Tyr1199Ser
XM_011532798.1:c.3710A>C (MSH6) XP_011531100.1:p.Tyr1237Ser
XM_011532799.1:c.3596A>C (MSH6) XP_011531101.1:p.Tyr1199Ser
XM_011532800.1:c.3596A>C (MSH6) XP_011531102.1:p.Tyr1199Ser
XM_024452819.1:c.3986A>C (MSH6) XP_024308587.1:p.Tyr1329Ser
XM_024452820.1:c.3803A>C (MSH6) XP_024308588.1:p.Tyr1268Ser
XM_024452821.1:c.3689A>C (MSH6) XP_024308589.1:p.Tyr1230Ser
XM_024452822.1:c.3080A>C (MSH6) XP_024308590.1:p.Tyr1027Ser
NM_000179.3:c.3893A>C (MSH6) MANE Select NP_000170.1:p.Tyr1298Ser
NM_001281492.2:c.3503A>C (MSH6) NP_001268421.1:p.Tyr1168Ser
NM_001281493.2:c.2987A>C (MSH6) NP_001268422.1:p.Tyr996Ser
NM_001281494.2:c.2987A>C (MSH6) NP_001268423.1:p.Tyr996Ser