Canonical Allele Identifier: CA2699322338

Linked Data

dbSNP Id: rs2104548594

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806397T>A , CM000664.2:g.47806397T>A GRCh38
NC_000002.11:g.48033536T>A , CM000664.1:g.48033536T>A GRCh37
NC_000002.10:g.47887040T>A NCBI36
NG_007111.1:g.28251T>A , LRG_219:g.28251T>A
NG_008397.1:g.104279A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3504+39T>A (MSH6) ENSP00000406248.2:n.3504+39T>A
ENST00000420813.6:c.3504+39T>A (MSH6) ENSP00000390382.2:n.3504+39T>A
ENST00000455383.6:c.3504+39T>A (MSH6) ENSP00000397484.2:n.3504+39T>A
ENST00000700004.2:c.3417+39T>A (MSH6) ENSP00000514752.2:n.3417+39T>A
ENST00000699999.1:n.4475+39T>A (MSH6)
ENST00000700000.1:c.2235+39T>A (MSH6) ENSP00000514749.1:n.2235+39T>A
ENST00000700002.1:c.3807+39T>A (MSH6) ENSP00000514750.1:n.3807+39T>A
ENST00000700003.1:c.1256+39T>A (MSH6) ENSP00000514751.1:n.1256+39T>A
ENST00000700004.1:c.2574+39T>A (MSH6) ENSP00000514752.1:n.2574+39T>A
ENST00000700005.1:n.2652+39T>A (MSH6)
ENST00000700006.1:n.4959+39T>A (MSH6)
ENST00000700007.1:n.2396+39T>A (MSH6)
ENST00000700008.1:n.2009T>A (MSH6)
ENST00000700009.1:n.2465+39T>A (MSH6)
ENST00000700010.1:n.1210+39T>A (MSH6)
ENST00000700011.1:n.3095+39T>A (MSH6)
ENST00000682451.1:n.4351A>T (FBXO11)
ENST00000684712.1:n.4613A>T (FBXO11)
ENST00000234420.11:c.3801+39T>A (MSH6) MANE Select ENSP00000234420.5:n.3801+39T>A
ENST00000540021.6:c.3411+39T>A (MSH6) ENSP00000446475.1:n.3411+39T>A
ENST00000652107.1:c.3504+39T>A (MSH6) ENSP00000498629.1:n.3504+39T>A
ENST00000673637.1:c.3504+39T>A (MSH6) ENSP00000501310.1:n.3504+39T>A
ENST00000234420.9:c.3801+39T>A (MSH6) ENSP00000234420.4:n.3801+39T>A
ENST00000405808.5:c.169+1798A>T (FBXO11) ENSP00000385127.1:n.169+1798A>T
ENST00000434234.5:c.*124+1597A>T (FBXO11) ENSP00000402692.1:n.*124+1597A>T
ENST00000445503.5:c.*3148+39T>A (MSH6) ENSP00000405294.1:n.*3148+39T>A
ENST00000538136.1:c.2895+39T>A (MSH6) ENSP00000438580.1:n.2895+39T>A
ENST00000540021.5:c.3411+39T>A (MSH6) ENSP00000446475.1:n.3411+39T>A
ENST00000614496.4:c.2895+39T>A (MSH6) ENSP00000477844.1:n.2895+39T>A
ENST00000622629.4:c.702+39T>A (MSH6) ENSP00000482078.1:n.702+39T>A
NM_000179.2:c.3801+39T>A , LRG_219t1:c.3801+39T>A (MSH6) NP_000170.1:n.3801+39T>A
NM_001281492.1:c.3411+39T>A (MSH6) NP_001268421.1:n.3411+39T>A
NM_001281493.1:c.2895+39T>A (MSH6) NP_001268422.1:n.2895+39T>A
NM_001281494.1:c.2895+39T>A (MSH6) NP_001268423.1:n.2895+39T>A
XM_005264271.1:c.3504+39T>A (MSH6) XP_005264328.1:n.3504+39T>A
XM_011532798.1:c.3618+39T>A (MSH6) XP_011531100.1:n.3618+39T>A
XM_011532799.1:c.3504+39T>A (MSH6) XP_011531101.1:n.3504+39T>A
XM_011532800.1:c.3504+39T>A (MSH6) XP_011531102.1:n.3504+39T>A
XM_024452819.1:c.3840T>A (MSH6) XP_024308587.1:p.Phe1280Leu
XM_024452820.1:c.3657T>A (MSH6) XP_024308588.1:p.Phe1219Leu
XM_024452821.1:c.3543T>A (MSH6) XP_024308589.1:p.Phe1181Leu
XM_024452822.1:c.2934T>A (MSH6) XP_024308590.1:p.Phe978Leu
NM_000179.3:c.3801+39T>A (MSH6) MANE Select NP_000170.1:n.3801+39T>A
NM_001281492.2:c.3411+39T>A (MSH6) NP_001268421.1:n.3411+39T>A
NM_001281493.2:c.2895+39T>A (MSH6) NP_001268422.1:n.2895+39T>A
NM_001281494.2:c.2895+39T>A (MSH6) NP_001268423.1:n.2895+39T>A