Canonical Allele Identifier: CA346761235

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806464G>T , CM000664.2:g.47806464G>T GRCh38
NC_000002.11:g.48033603G>T , CM000664.1:g.48033603G>T GRCh37
NC_000002.10:g.47887107G>T NCBI36
NG_007111.1:g.28318G>T , LRG_219:g.28318G>T
NG_008397.1:g.104212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3517G>T (MSH6) ENSP00000406248.2:p.Glu1173Ter
ENST00000420813.6:c.3517G>T (MSH6) ENSP00000390382.2:p.Glu1173Ter
ENST00000455383.6:c.3517G>T (MSH6) ENSP00000397484.2:p.Glu1173Ter
ENST00000700004.2:c.3430G>T (MSH6) ENSP00000514752.2:p.Glu1144Ter
ENST00000699999.1:n.4488G>T (MSH6)
ENST00000700000.1:c.2248G>T (MSH6) ENSP00000514749.1:p.Glu750Ter
ENST00000700002.1:c.3820G>T (MSH6) ENSP00000514750.1:p.Glu1274Ter
ENST00000700003.1:c.1269G>T (MSH6) ENSP00000514751.1:n.1269G>T
ENST00000700004.1:c.2587G>T (MSH6) ENSP00000514752.1:p.Glu863Ter
ENST00000700005.1:n.2665G>T (MSH6)
ENST00000700006.1:n.4972G>T (MSH6)
ENST00000700007.1:n.2409G>T (MSH6)
ENST00000700008.1:n.2076G>T (MSH6)
ENST00000700009.1:n.2478G>T (MSH6)
ENST00000700010.1:n.1223G>T (MSH6)
ENST00000700011.1:n.3108G>T (MSH6)
ENST00000682451.1:n.4284C>A (FBXO11)
ENST00000684712.1:n.4546C>A (FBXO11)
ENST00000234420.11:c.3814G>T (MSH6) MANE Select ENSP00000234420.5:p.Glu1272Ter
ENST00000540021.6:c.3424G>T (MSH6) ENSP00000446475.1:p.Glu1142Ter
ENST00000652107.1:c.3517G>T (MSH6) ENSP00000498629.1:p.Glu1173Ter
ENST00000673637.1:c.3517G>T (MSH6) ENSP00000501310.1:p.Glu1173Ter
ENST00000234420.9:c.3814G>T (MSH6) ENSP00000234420.4:p.Glu1272Ter
ENST00000405808.5:c.169+1731C>A (FBXO11) ENSP00000385127.1:n.169+1731C>A
ENST00000434234.5:c.*124+1530C>A (FBXO11) ENSP00000402692.1:n.*124+1530C>A
ENST00000445503.5:c.*3161G>T (MSH6) ENSP00000405294.1:n.*3161G>T
ENST00000538136.1:c.2908G>T (MSH6) ENSP00000438580.1:p.Glu970Ter
ENST00000540021.5:c.3424G>T (MSH6) ENSP00000446475.1:p.Glu1142Ter
ENST00000614496.4:c.2908G>T (MSH6) ENSP00000477844.1:p.Glu970Ter
ENST00000622629.4:c.715G>T (MSH6) ENSP00000482078.1:p.Glu239Ter
NM_000179.2:c.3814G>T , LRG_219t1:c.3814G>T (MSH6) NP_000170.1:p.Glu1272Ter
NM_001281492.1:c.3424G>T (MSH6) NP_001268421.1:p.Glu1142Ter
NM_001281493.1:c.2908G>T (MSH6) NP_001268422.1:p.Glu970Ter
NM_001281494.1:c.2908G>T (MSH6) NP_001268423.1:p.Glu970Ter
XM_005264271.1:c.3517G>T (MSH6) XP_005264328.1:p.Glu1173Ter
XM_011532798.1:c.3631G>T (MSH6) XP_011531100.1:p.Glu1211Ter
XM_011532799.1:c.3517G>T (MSH6) XP_011531101.1:p.Glu1173Ter
XM_011532800.1:c.3517G>T (MSH6) XP_011531102.1:p.Glu1173Ter
XM_024452819.1:c.3907G>T (MSH6) XP_024308587.1:p.Glu1303Ter
XM_024452820.1:c.3724G>T (MSH6) XP_024308588.1:p.Glu1242Ter
XM_024452821.1:c.3610G>T (MSH6) XP_024308589.1:p.Glu1204Ter
XM_024452822.1:c.3001G>T (MSH6) XP_024308590.1:p.Glu1001Ter
NM_000179.3:c.3814G>T (MSH6) MANE Select NP_000170.1:p.Glu1272Ter
NM_001281492.2:c.3424G>T (MSH6) NP_001268421.1:p.Glu1142Ter
NM_001281493.2:c.2908G>T (MSH6) NP_001268422.1:p.Glu970Ter
NM_001281494.2:c.2908G>T (MSH6) NP_001268423.1:p.Glu970Ter