Canonical Allele Identifier: CA346758813

Linked Data

dbSNP Id: rs2104483165

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803623A>T , CM000664.2:g.47803623A>T GRCh38
NC_000002.11:g.48030762A>T , CM000664.1:g.48030762A>T GRCh37
NC_000002.10:g.47884266A>T NCBI36
NG_007111.1:g.25477A>T , LRG_219:g.25477A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3079A>T (MSH6) ENSP00000406248.2:p.Lys1027Ter
ENST00000420813.6:c.3079A>T (MSH6) ENSP00000390382.2:p.Lys1027Ter
ENST00000455383.6:c.3079A>T (MSH6) ENSP00000397484.2:p.Lys1027Ter
ENST00000700004.2:c.3173-1995A>T (MSH6) ENSP00000514752.2:n.3173-1995A>T
ENST00000699999.1:n.3460A>T (MSH6)
ENST00000700000.1:c.1810A>T (MSH6) ENSP00000514749.1:p.Lys604Ter
ENST00000700002.1:c.3382A>T (MSH6) ENSP00000514750.1:p.Lys1128Ter
ENST00000700003.1:c.831A>T (MSH6) ENSP00000514751.1:n.831A>T
ENST00000700004.1:c.2330-1995A>T (MSH6) ENSP00000514752.1:n.2330-1995A>T
ENST00000700005.1:n.2227A>T (MSH6)
ENST00000700006.1:n.2224A>T (MSH6)
ENST00000700007.1:n.1381A>T (MSH6)
ENST00000700008.1:n.955A>T (MSH6)
ENST00000700009.1:n.954A>T (MSH6)
ENST00000700010.1:n.785A>T (MSH6)
ENST00000700011.1:n.856A>T (MSH6)
ENST00000234420.11:c.3376A>T (MSH6) MANE Select ENSP00000234420.5:p.Lys1126Ter
ENST00000540021.6:c.2986A>T (MSH6) ENSP00000446475.1:p.Lys996Ter
ENST00000652107.1:c.3079A>T (MSH6) ENSP00000498629.1:p.Lys1027Ter
ENST00000673637.1:c.3079A>T (MSH6) ENSP00000501310.1:p.Lys1027Ter
ENST00000234420.9:c.3376A>T (MSH6) ENSP00000234420.4:p.Lys1126Ter
ENST00000405808.5:c.169+4572T>A (FBXO11) ENSP00000385127.1:n.169+4572T>A
ENST00000434234.5:c.*124+4371T>A (FBXO11) ENSP00000402692.1:n.*124+4371T>A
ENST00000445503.5:c.*2723A>T (MSH6) ENSP00000405294.1:n.*2723A>T
ENST00000538136.1:c.2470A>T (MSH6) ENSP00000438580.1:p.Lys824Ter
ENST00000540021.5:c.2986A>T (MSH6) ENSP00000446475.1:p.Lys996Ter
ENST00000614496.4:c.2470A>T (MSH6) ENSP00000477844.1:p.Lys824Ter
ENST00000622629.4:c.280A>T (MSH6) ENSP00000482078.1:p.Lys94Ter
NM_000179.2:c.3376A>T , LRG_219t1:c.3376A>T (MSH6) NP_000170.1:p.Lys1126Ter
NM_001281492.1:c.2986A>T (MSH6) NP_001268421.1:p.Lys996Ter
NM_001281493.1:c.2470A>T (MSH6) NP_001268422.1:p.Lys824Ter
NM_001281494.1:c.2470A>T (MSH6) NP_001268423.1:p.Lys824Ter
XM_005264271.1:c.3079A>T (MSH6) XP_005264328.1:p.Lys1027Ter
XM_011532798.1:c.3193A>T (MSH6) XP_011531100.1:p.Lys1065Ter
XM_011532799.1:c.3079A>T (MSH6) XP_011531101.1:p.Lys1027Ter
XM_011532800.1:c.3079A>T (MSH6) XP_011531102.1:p.Lys1027Ter
XM_024452819.1:c.3376A>T (MSH6) XP_024308587.1:p.Lys1126Ter
XM_024452820.1:c.3193A>T (MSH6) XP_024308588.1:p.Lys1065Ter
XM_024452821.1:c.3079A>T (MSH6) XP_024308589.1:p.Lys1027Ter
XM_024452822.1:c.2470A>T (MSH6) XP_024308590.1:p.Lys824Ter
NM_000179.3:c.3376A>T (MSH6) MANE Select NP_000170.1:p.Lys1126Ter
NM_001281492.2:c.2986A>T (MSH6) NP_001268421.1:p.Lys996Ter
NM_001281493.2:c.2470A>T (MSH6) NP_001268422.1:p.Lys824Ter
NM_001281494.2:c.2470A>T (MSH6) NP_001268423.1:p.Lys824Ter