Canonical Allele Identifier: CA2496054282

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806567C= , CM000664.2:g.47806567C= GRCh38
NC_000002.11:g.48033706C= , CM000664.1:g.48033706C= GRCh37
NC_000002.10:g.47887210C= NCBI36
NG_007111.1:g.28421C= , LRG_219:g.28421C=
NG_008397.1:g.104109G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3620C= (MSH6) ENSP00000406248.2:p.Ala1207=
ENST00000420813.6:c.3620C= (MSH6) ENSP00000390382.2:p.Ala1207=
ENST00000455383.6:c.3620C= (MSH6) ENSP00000397484.2:p.Ala1207=
ENST00000700004.2:c.3533C= (MSH6) ENSP00000514752.2:p.Ala1178=
ENST00000699999.1:n.4591C= (MSH6)
ENST00000700000.1:c.2351C= (MSH6) ENSP00000514749.1:p.Ala784=
ENST00000700002.1:c.3923C= (MSH6) ENSP00000514750.1:p.Ala1308=
ENST00000700003.1:c.1372C= (MSH6) ENSP00000514751.1:n.1372C=
ENST00000700004.1:c.2690C= (MSH6) ENSP00000514752.1:p.Ala897=
ENST00000700005.1:n.2768C= (MSH6)
ENST00000700006.1:n.5075C= (MSH6)
ENST00000700007.1:n.2512C= (MSH6)
ENST00000700008.1:n.2179C= (MSH6)
ENST00000700009.1:n.2581C= (MSH6)
ENST00000700010.1:n.1326C= (MSH6)
ENST00000700011.1:n.3211C= (MSH6)
ENST00000682451.1:n.4181G= (FBXO11)
ENST00000684712.1:n.4443G= (FBXO11)
ENST00000234420.11:c.3917C= (MSH6) MANE Select ENSP00000234420.5:p.Ala1306=
ENST00000540021.6:c.3527C= (MSH6) ENSP00000446475.1:p.Ala1176=
ENST00000652107.1:c.3620C= (MSH6) ENSP00000498629.1:p.Ala1207=
ENST00000673637.1:c.3620C= (MSH6) ENSP00000501310.1:p.Ala1207=
ENST00000234420.9:c.3917C= (MSH6) ENSP00000234420.4:p.Ala1306=
ENST00000405808.5:c.169+1628G= (FBXO11) ENSP00000385127.1:n.169+1628G=
ENST00000434234.5:c.*124+1427G= (FBXO11) ENSP00000402692.1:n.*124+1427G=
ENST00000445503.5:c.*3264C= (MSH6) ENSP00000405294.1:n.*3264C=
ENST00000538136.1:c.3011C= (MSH6) ENSP00000438580.1:p.Ala1004=
ENST00000540021.5:c.3527C= (MSH6) ENSP00000446475.1:p.Ala1176=
ENST00000614496.4:c.3011C= (MSH6) ENSP00000477844.1:p.Ala1004=
ENST00000622629.4:c.818C= (MSH6) ENSP00000482078.1:p.Ala273=
NM_000179.2:c.3917C= , LRG_219t1:c.3917C= (MSH6) NP_000170.1:p.Ala1306=
NM_001281492.1:c.3527C= (MSH6) NP_001268421.1:p.Ala1176=
NM_001281493.1:c.3011C= (MSH6) NP_001268422.1:p.Ala1004=
NM_001281494.1:c.3011C= (MSH6) NP_001268423.1:p.Ala1004=
XM_005264271.1:c.3620C= (MSH6) XP_005264328.1:p.Ala1207=
XM_011532798.1:c.3734C= (MSH6) XP_011531100.1:p.Ala1245=
XM_011532799.1:c.3620C= (MSH6) XP_011531101.1:p.Ala1207=
XM_011532800.1:c.3620C= (MSH6) XP_011531102.1:p.Ala1207=
XM_024452819.1:c.4010C= (MSH6) XP_024308587.1:p.Ala1337=
XM_024452820.1:c.3827C= (MSH6) XP_024308588.1:p.Ala1276=
XM_024452821.1:c.3713C= (MSH6) XP_024308589.1:p.Ala1238=
XM_024452822.1:c.3104C= (MSH6) XP_024308590.1:p.Ala1035=
NM_000179.3:c.3917C= (MSH6) MANE Select NP_000170.1:p.Ala1306=
NM_001281492.2:c.3527C= (MSH6) NP_001268421.1:p.Ala1176=
NM_001281493.2:c.3011C= (MSH6) NP_001268422.1:p.Ala1004=
NM_001281494.2:c.3011C= (MSH6) NP_001268423.1:p.Ala1004=