Canonical Allele Identifier: CA346761199

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806358G>T , CM000664.2:g.47806358G>T GRCh38
NC_000002.11:g.48033497G>T , CM000664.1:g.48033497G>T GRCh37
NC_000002.10:g.47887001G>T NCBI36
NG_007111.1:g.28212G>T , LRG_219:g.28212G>T
NG_008397.1:g.104318C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3504G>T (MSH6) ENSP00000406248.2:p.Met1168Ile
ENST00000420813.6:c.3504G>T (MSH6) ENSP00000390382.2:p.Met1168Ile
ENST00000455383.6:c.3504G>T (MSH6) ENSP00000397484.2:p.Met1168Ile
ENST00000700004.2:c.3417G>T (MSH6) ENSP00000514752.2:p.Met1139Ile
ENST00000699999.1:n.4475G>T (MSH6)
ENST00000700000.1:c.2235G>T (MSH6) ENSP00000514749.1:p.Met745Ile
ENST00000700002.1:c.3807G>T (MSH6) ENSP00000514750.1:p.Met1269Ile
ENST00000700003.1:c.1256G>T (MSH6) ENSP00000514751.1:n.1256G>T
ENST00000700004.1:c.2574G>T (MSH6) ENSP00000514752.1:p.Met858Ile
ENST00000700005.1:n.2652G>T (MSH6)
ENST00000700006.1:n.4959G>T (MSH6)
ENST00000700007.1:n.2396G>T (MSH6)
ENST00000700008.1:n.1970G>T (MSH6)
ENST00000700009.1:n.2465G>T (MSH6)
ENST00000700010.1:n.1210G>T (MSH6)
ENST00000700011.1:n.3095G>T (MSH6)
ENST00000682451.1:n.4390C>A (FBXO11)
ENST00000684712.1:n.4652C>A (FBXO11)
ENST00000234420.11:c.3801G>T (MSH6) MANE Select ENSP00000234420.5:p.Met1267Ile
ENST00000540021.6:c.3411G>T (MSH6) ENSP00000446475.1:p.Met1137Ile
ENST00000652107.1:c.3504G>T (MSH6) ENSP00000498629.1:p.Met1168Ile
ENST00000673637.1:c.3504G>T (MSH6) ENSP00000501310.1:p.Met1168Ile
ENST00000234420.9:c.3801G>T (MSH6) ENSP00000234420.4:p.Met1267Ile
ENST00000405808.5:c.169+1837C>A (FBXO11) ENSP00000385127.1:n.169+1837C>A
ENST00000434234.5:c.*124+1636C>A (FBXO11) ENSP00000402692.1:n.*124+1636C>A
ENST00000445503.5:c.*3148G>T (MSH6) ENSP00000405294.1:n.*3148G>T
ENST00000538136.1:c.2895G>T (MSH6) ENSP00000438580.1:p.Met965Ile
ENST00000540021.5:c.3411G>T (MSH6) ENSP00000446475.1:p.Met1137Ile
ENST00000614496.4:c.2895G>T (MSH6) ENSP00000477844.1:p.Met965Ile
ENST00000622629.4:c.702G>T (MSH6) ENSP00000482078.1:p.Met234Ile
NM_000179.2:c.3801G>T , LRG_219t1:c.3801G>T (MSH6) NP_000170.1:p.Met1267Ile
NM_001281492.1:c.3411G>T (MSH6) NP_001268421.1:p.Met1137Ile
NM_001281493.1:c.2895G>T (MSH6) NP_001268422.1:p.Met965Ile
NM_001281494.1:c.2895G>T (MSH6) NP_001268423.1:p.Met965Ile
XM_005264271.1:c.3504G>T (MSH6) XP_005264328.1:p.Met1168Ile
XM_011532798.1:c.3618G>T (MSH6) XP_011531100.1:p.Met1206Ile
XM_011532799.1:c.3504G>T (MSH6) XP_011531101.1:p.Met1168Ile
XM_011532800.1:c.3504G>T (MSH6) XP_011531102.1:p.Met1168Ile
XM_024452819.1:c.3801G>T (MSH6) XP_024308587.1:p.Met1267Ile
XM_024452820.1:c.3618G>T (MSH6) XP_024308588.1:p.Met1206Ile
XM_024452821.1:c.3504G>T (MSH6) XP_024308589.1:p.Met1168Ile
XM_024452822.1:c.2895G>T (MSH6) XP_024308590.1:p.Met965Ile
NM_000179.3:c.3801G>T (MSH6) MANE Select NP_000170.1:p.Met1267Ile
NM_001281492.2:c.3411G>T (MSH6) NP_001268421.1:p.Met1137Ile
NM_001281493.2:c.2895G>T (MSH6) NP_001268422.1:p.Met965Ile
NM_001281494.2:c.2895G>T (MSH6) NP_001268423.1:p.Met965Ile