Canonical Allele Identifier: CA008701

Linked Data

ClinVar Variation Id: 89197
dbSNP Id: rs587779212
gnomAD v2: 2-48026605-C-T
gnomAD v4: 2-47799466-C-T
COSMIC: COSM29732

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799466C>T , CM000664.2:g.47799466C>T GRCh38
NC_000002.11:g.48026605C>T , CM000664.1:g.48026605C>T GRCh37
NC_000002.10:g.47880109C>T NCBI36
NG_007111.1:g.21320C>T , LRG_219:g.21320C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1186C>T (MSH6) ENSP00000406248.2:p.Arg396Ter
ENST00000420813.6:c.1186C>T (MSH6) ENSP00000390382.2:p.Arg396Ter
ENST00000455383.6:c.1186C>T (MSH6) ENSP00000397484.2:p.Arg396Ter
ENST00000700004.2:c.1483C>T (MSH6) ENSP00000514752.2:p.Arg495Ter
ENST00000699999.1:n.1567C>T (MSH6)
ENST00000700000.1:c.1483C>T (MSH6) ENSP00000514749.1:p.Arg495Ter
ENST00000700002.1:c.1489C>T (MSH6) ENSP00000514750.1:p.Arg497Ter
ENST00000700003.1:c.627+3403C>T (MSH6) ENSP00000514751.1:n.627+3403C>T
ENST00000700004.1:c.640C>T (MSH6) ENSP00000514752.1:p.Arg214Ter
ENST00000234420.11:c.1483C>T (MSH6) MANE Select ENSP00000234420.5:p.Arg495Ter
ENST00000540021.6:c.1093C>T (MSH6) ENSP00000446475.1:p.Arg365Ter
ENST00000652107.1:c.1186C>T (MSH6) ENSP00000498629.1:p.Arg396Ter
ENST00000673637.1:c.1186C>T (MSH6) ENSP00000501310.1:p.Arg396Ter
ENST00000234420.9:c.1483C>T (MSH6) ENSP00000234420.4:p.Arg495Ter
ENST00000405808.5:c.169+8729G>A (FBXO11) ENSP00000385127.1:n.169+8729G>A
ENST00000434234.5:c.*124+8528G>A (FBXO11) ENSP00000402692.1:n.*124+8528G>A
ENST00000445503.5:c.*830C>T (MSH6) ENSP00000405294.1:n.*830C>T
ENST00000538136.1:c.577C>T (MSH6) ENSP00000438580.1:p.Arg193Ter
ENST00000540021.5:c.1093C>T (MSH6) ENSP00000446475.1:p.Arg365Ter
ENST00000614496.4:c.577C>T (MSH6) ENSP00000477844.1:p.Arg193Ter
ENST00000616033.4:c.1480C>T (MSH6) ENSP00000480261.1:p.Arg494Ter
ENST00000622629.4:c.-1614C>T (MSH6) ENSP00000482078.1:n.-1614C>T
NM_000179.2:c.1483C>T , LRG_219t1:c.1483C>T (MSH6) NP_000170.1:p.Arg495Ter
NM_001281492.1:c.1093C>T (MSH6) NP_001268421.1:p.Arg365Ter
NM_001281493.1:c.577C>T (MSH6) NP_001268422.1:p.Arg193Ter
NM_001281494.1:c.577C>T (MSH6) NP_001268423.1:p.Arg193Ter
XM_005264271.1:c.1186C>T (MSH6) XP_005264328.1:p.Arg396Ter
XM_011532798.1:c.1300C>T (MSH6) XP_011531100.1:p.Arg434Ter
XM_011532799.1:c.1186C>T (MSH6) XP_011531101.1:p.Arg396Ter
XM_011532800.1:c.1186C>T (MSH6) XP_011531102.1:p.Arg396Ter
XM_024452819.1:c.1483C>T (MSH6) XP_024308587.1:p.Arg495Ter
XM_024452820.1:c.1300C>T (MSH6) XP_024308588.1:p.Arg434Ter
XM_024452821.1:c.1186C>T (MSH6) XP_024308589.1:p.Arg396Ter
XM_024452822.1:c.577C>T (MSH6) XP_024308590.1:p.Arg193Ter
NM_000179.3:c.1483C>T (MSH6) MANE Select NP_000170.1:p.Arg495Ter
NM_001281492.2:c.1093C>T (MSH6) NP_001268421.1:p.Arg365Ter
NM_001281493.2:c.577C>T (MSH6) NP_001268422.1:p.Arg193Ter
NM_001281494.2:c.577C>T (MSH6) NP_001268423.1:p.Arg193Ter