Canonical Allele Identifier: CA346761183
Community Standard Title: NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806350G>T , CM000664.2:g.47806350G>T GRCh38
NC_000002.11:g.48033489G>T , CM000664.1:g.48033489G>T GRCh37
NC_000002.10:g.47886993G>T NCBI36
NG_007111.1:g.28204G>T , LRG_219:g.28204G>T
NG_008397.1:g.104326C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000179.3:c.3793G>T (MSH6) MANE Select NP_000170.1:p.Gly1265Ter
ENST00000234420.11:c.3793G>T (MSH6) MANE Select ENSP00000234420.5:p.Gly1265Ter
NM_000179.2:c.3793G>T , LRG_219t1:c.3793G>T (MSH6) NP_000170.1:p.Gly1265Ter
NM_001281492.1:c.3403G>T (MSH6) NP_001268421.1:p.Gly1135Ter
NM_001281492.2:c.3403G>T (MSH6) NP_001268421.1:p.Gly1135Ter
NM_001281493.1:c.2887G>T (MSH6) NP_001268422.1:p.Gly963Ter
NM_001281493.2:c.2887G>T (MSH6) NP_001268422.1:p.Gly963Ter
NM_001281494.1:c.2887G>T (MSH6) NP_001268423.1:p.Gly963Ter
NM_001281494.2:c.2887G>T (MSH6) NP_001268423.1:p.Gly963Ter
ENST00000234420.9:c.3793G>T (MSH6) ENSP00000234420.4:p.Gly1265Ter
ENST00000405808.5:c.169+1845C>A (FBXO11) ENSP00000385127.1:n.169+1845C>A
ENST00000411819.2:c.3496G>T (MSH6) ENSP00000406248.2:p.Gly1166Ter
ENST00000420813.6:c.3496G>T (MSH6) ENSP00000390382.2:p.Gly1166Ter
ENST00000434234.5:c.*124+1644C>A (FBXO11) ENSP00000402692.1:n.*124+1644C>A
ENST00000445503.5:c.*3140G>T (MSH6) ENSP00000405294.1:n.*3140G>T
ENST00000455383.6:c.3496G>T (MSH6) ENSP00000397484.2:p.Gly1166Ter
ENST00000538136.1:c.2887G>T (MSH6) ENSP00000438580.1:p.Gly963Ter
ENST00000540021.5:c.3403G>T (MSH6) ENSP00000446475.1:p.Gly1135Ter
ENST00000540021.6:c.3403G>T (MSH6) ENSP00000446475.1:p.Gly1135Ter
ENST00000614496.4:c.2887G>T (MSH6) ENSP00000477844.1:p.Gly963Ter
ENST00000622629.4:c.694G>T (MSH6) ENSP00000482078.1:p.Gly232Ter
ENST00000652107.1:c.3496G>T (MSH6) ENSP00000498629.1:p.Gly1166Ter
ENST00000673637.1:c.3496G>T (MSH6) ENSP00000501310.1:p.Gly1166Ter
ENST00000682451.1:n.4398C>A (FBXO11)
ENST00000684712.1:n.4660C>A (FBXO11)
ENST00000699999.1:n.4467G>T (MSH6)
ENST00000700000.1:c.2227G>T (MSH6) ENSP00000514749.1:p.Gly743Ter
ENST00000700002.1:c.3799G>T (MSH6) ENSP00000514750.1:p.Gly1267Ter
ENST00000700003.1:c.1248G>T (MSH6) ENSP00000514751.1:n.1248G>T
ENST00000700004.1:c.2566G>T (MSH6) ENSP00000514752.1:p.Gly856Ter
ENST00000700004.2:c.3409G>T (MSH6) ENSP00000514752.2:p.Gly1137Ter
ENST00000700005.1:n.2644G>T (MSH6)
ENST00000700006.1:n.4951G>T (MSH6)
ENST00000700007.1:n.2388G>T (MSH6)
ENST00000700008.1:n.1962G>T (MSH6)
ENST00000700009.1:n.2457G>T (MSH6)
ENST00000700010.1:n.1202G>T (MSH6)
ENST00000700011.1:n.3087G>T (MSH6)
XM_005264271.1:c.3496G>T (MSH6) XP_005264328.1:p.Gly1166Ter
XM_011532798.1:c.3610G>T (MSH6) XP_011531100.1:p.Gly1204Ter
XM_011532799.1:c.3496G>T (MSH6) XP_011531101.1:p.Gly1166Ter
XM_011532800.1:c.3496G>T (MSH6) XP_011531102.1:p.Gly1166Ter
XM_024452819.1:c.3793G>T (MSH6) XP_024308587.1:p.Gly1265Ter
XM_024452820.1:c.3610G>T (MSH6) XP_024308588.1:p.Gly1204Ter
XM_024452821.1:c.3496G>T (MSH6) XP_024308589.1:p.Gly1166Ter
XM_024452822.1:c.2887G>T (MSH6) XP_024308590.1:p.Gly963Ter