Canonical Allele Identifier: CA346748599

Linked Data

ClinVar Variation Id: 428315
dbSNP Id: rs1064795256

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799697C>G , CM000664.2:g.47799697C>G GRCh38
NC_000002.11:g.48026836C>G , CM000664.1:g.48026836C>G GRCh37
NC_000002.10:g.47880340C>G NCBI36
NG_007111.1:g.21551C>G , LRG_219:g.21551C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1417C>G (MSH6) ENSP00000406248.2:p.Gln473Glu
ENST00000420813.6:c.1417C>G (MSH6) ENSP00000390382.2:p.Gln473Glu
ENST00000455383.6:c.1417C>G (MSH6) ENSP00000397484.2:p.Gln473Glu
ENST00000700004.2:c.1714C>G (MSH6) ENSP00000514752.2:p.Gln572Glu
ENST00000699999.1:n.1798C>G (MSH6)
ENST00000700000.1:c.1606+108C>G (MSH6) ENSP00000514749.1:n.1606+108C>G
ENST00000700002.1:c.1720C>G (MSH6) ENSP00000514750.1:p.Gln574Glu
ENST00000700003.1:c.627+3634C>G (MSH6) ENSP00000514751.1:n.627+3634C>G
ENST00000700004.1:c.871C>G (MSH6) ENSP00000514752.1:p.Gln291Glu
ENST00000234420.11:c.1714C>G (MSH6) MANE Select ENSP00000234420.5:p.Gln572Glu
ENST00000540021.6:c.1324C>G (MSH6) ENSP00000446475.1:p.Gln442Glu
ENST00000652107.1:c.1417C>G (MSH6) ENSP00000498629.1:p.Gln473Glu
ENST00000673637.1:c.1417C>G (MSH6) ENSP00000501310.1:p.Gln473Glu
ENST00000234420.9:c.1714C>G (MSH6) ENSP00000234420.4:p.Gln572Glu
ENST00000405808.5:c.169+8498G>C (FBXO11) ENSP00000385127.1:n.169+8498G>C
ENST00000434234.5:c.*124+8297G>C (FBXO11) ENSP00000402692.1:n.*124+8297G>C
ENST00000445503.5:c.*1061C>G (MSH6) ENSP00000405294.1:n.*1061C>G
ENST00000538136.1:c.808C>G (MSH6) ENSP00000438580.1:p.Gln270Glu
ENST00000540021.5:c.1324C>G (MSH6) ENSP00000446475.1:p.Gln442Glu
ENST00000614496.4:c.808C>G (MSH6) ENSP00000477844.1:p.Gln270Glu
ENST00000616033.4:c.1711C>G (MSH6) ENSP00000480261.1:p.Gln571Glu
ENST00000622629.4:c.-1383C>G (MSH6) ENSP00000482078.1:n.-1383C>G
NM_000179.2:c.1714C>G , LRG_219t1:c.1714C>G (MSH6) NP_000170.1:p.Gln572Glu
NM_001281492.1:c.1324C>G (MSH6) NP_001268421.1:p.Gln442Glu
NM_001281493.1:c.808C>G (MSH6) NP_001268422.1:p.Gln270Glu
NM_001281494.1:c.808C>G (MSH6) NP_001268423.1:p.Gln270Glu
XM_005264271.1:c.1417C>G (MSH6) XP_005264328.1:p.Gln473Glu
XM_011532798.1:c.1531C>G (MSH6) XP_011531100.1:p.Gln511Glu
XM_011532799.1:c.1417C>G (MSH6) XP_011531101.1:p.Gln473Glu
XM_011532800.1:c.1417C>G (MSH6) XP_011531102.1:p.Gln473Glu
XM_024452819.1:c.1714C>G (MSH6) XP_024308587.1:p.Gln572Glu
XM_024452820.1:c.1531C>G (MSH6) XP_024308588.1:p.Gln511Glu
XM_024452821.1:c.1417C>G (MSH6) XP_024308589.1:p.Gln473Glu
XM_024452822.1:c.808C>G (MSH6) XP_024308590.1:p.Gln270Glu
NM_000179.3:c.1714C>G (MSH6) MANE Select NP_000170.1:p.Gln572Glu
NM_001281492.2:c.1324C>G (MSH6) NP_001268421.1:p.Gln442Glu
NM_001281493.2:c.808C>G (MSH6) NP_001268422.1:p.Gln270Glu
NM_001281494.2:c.808C>G (MSH6) NP_001268423.1:p.Gln270Glu