Canonical Allele Identifier: CA346761510

Linked Data

dbSNP Id: rs1558394245

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806594A>C , CM000664.2:g.47806594A>C GRCh38
NC_000002.11:g.48033733A>C , CM000664.1:g.48033733A>C GRCh37
NC_000002.10:g.47887237A>C NCBI36
NG_007111.1:g.28448A>C , LRG_219:g.28448A>C
NG_008397.1:g.104082T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3647A>C (MSH6) ENSP00000406248.2:p.Lys1216Thr
ENST00000420813.6:c.3647A>C (MSH6) ENSP00000390382.2:p.Lys1216Thr
ENST00000455383.6:c.3647A>C (MSH6) ENSP00000397484.2:p.Lys1216Thr
ENST00000700004.2:c.3560A>C (MSH6) ENSP00000514752.2:p.Lys1187Thr
ENST00000699999.1:n.4618A>C (MSH6)
ENST00000700000.1:c.2378A>C (MSH6) ENSP00000514749.1:p.Lys793Thr
ENST00000700002.1:c.3950A>C (MSH6) ENSP00000514750.1:p.Lys1317Thr
ENST00000700003.1:c.1399A>C (MSH6) ENSP00000514751.1:n.1399A>C
ENST00000700004.1:c.2717A>C (MSH6) ENSP00000514752.1:p.Lys906Thr
ENST00000700005.1:n.2795A>C (MSH6)
ENST00000700006.1:n.5102A>C (MSH6)
ENST00000700007.1:n.2539A>C (MSH6)
ENST00000700008.1:n.2206A>C (MSH6)
ENST00000700009.1:n.2608A>C (MSH6)
ENST00000700010.1:n.1353A>C (MSH6)
ENST00000700011.1:n.3238A>C (MSH6)
ENST00000682451.1:n.4154T>G (FBXO11)
ENST00000684712.1:n.4416T>G (FBXO11)
ENST00000234420.11:c.3944A>C (MSH6) MANE Select ENSP00000234420.5:p.Lys1315Thr
ENST00000540021.6:c.3554A>C (MSH6) ENSP00000446475.1:p.Lys1185Thr
ENST00000652107.1:c.3647A>C (MSH6) ENSP00000498629.1:p.Lys1216Thr
ENST00000673637.1:c.3647A>C (MSH6) ENSP00000501310.1:p.Lys1216Thr
ENST00000234420.9:c.3944A>C (MSH6) ENSP00000234420.4:p.Lys1315Thr
ENST00000405808.5:c.169+1601T>G (FBXO11) ENSP00000385127.1:n.169+1601T>G
ENST00000434234.5:c.*124+1400T>G (FBXO11) ENSP00000402692.1:n.*124+1400T>G
ENST00000445503.5:c.*3291A>C (MSH6) ENSP00000405294.1:n.*3291A>C
ENST00000538136.1:c.3038A>C (MSH6) ENSP00000438580.1:p.Lys1013Thr
ENST00000540021.5:c.3554A>C (MSH6) ENSP00000446475.1:p.Lys1185Thr
ENST00000614496.4:c.3038A>C (MSH6) ENSP00000477844.1:p.Lys1013Thr
ENST00000622629.4:c.845A>C (MSH6) ENSP00000482078.1:p.Lys282Thr
NM_000179.2:c.3944A>C , LRG_219t1:c.3944A>C (MSH6) NP_000170.1:p.Lys1315Thr
NM_001281492.1:c.3554A>C (MSH6) NP_001268421.1:p.Lys1185Thr
NM_001281493.1:c.3038A>C (MSH6) NP_001268422.1:p.Lys1013Thr
NM_001281494.1:c.3038A>C (MSH6) NP_001268423.1:p.Lys1013Thr
XM_005264271.1:c.3647A>C (MSH6) XP_005264328.1:p.Lys1216Thr
XM_011532798.1:c.3761A>C (MSH6) XP_011531100.1:p.Lys1254Thr
XM_011532799.1:c.3647A>C (MSH6) XP_011531101.1:p.Lys1216Thr
XM_011532800.1:c.3647A>C (MSH6) XP_011531102.1:p.Lys1216Thr
XM_024452819.1:c.4037A>C (MSH6) XP_024308587.1:p.Lys1346Thr
XM_024452820.1:c.3854A>C (MSH6) XP_024308588.1:p.Lys1285Thr
XM_024452821.1:c.3740A>C (MSH6) XP_024308589.1:p.Lys1247Thr
XM_024452822.1:c.3131A>C (MSH6) XP_024308590.1:p.Lys1044Thr
NM_000179.3:c.3944A>C (MSH6) MANE Select NP_000170.1:p.Lys1315Thr
NM_001281492.2:c.3554A>C (MSH6) NP_001268421.1:p.Lys1185Thr
NM_001281493.2:c.3038A>C (MSH6) NP_001268422.1:p.Lys1013Thr
NM_001281494.2:c.3038A>C (MSH6) NP_001268423.1:p.Lys1013Thr