Canonical Allele Identifier: CA012669

Linked Data

ClinVar Variation Id: 89375
ClinVar RCV Id: RCV000074842
dbSNP Id: rs267608084

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803602G>T , CM000664.2:g.47803602G>T GRCh38
NC_000002.11:g.48030741G>T , CM000664.1:g.48030741G>T GRCh37
NC_000002.10:g.47884245G>T NCBI36
NG_007111.1:g.25456G>T , LRG_219:g.25456G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3058G>T (MSH6) ENSP00000406248.2:p.Glu1020Ter
ENST00000420813.6:c.3058G>T (MSH6) ENSP00000390382.2:p.Glu1020Ter
ENST00000455383.6:c.3058G>T (MSH6) ENSP00000397484.2:p.Glu1020Ter
ENST00000700004.2:c.3173-2016G>T (MSH6) ENSP00000514752.2:n.3173-2016G>T
ENST00000699999.1:n.3439G>T (MSH6)
ENST00000700000.1:c.1789G>T (MSH6) ENSP00000514749.1:p.Glu597Ter
ENST00000700002.1:c.3361G>T (MSH6) ENSP00000514750.1:p.Glu1121Ter
ENST00000700003.1:c.810G>T (MSH6) ENSP00000514751.1:n.810G>T
ENST00000700004.1:c.2330-2016G>T (MSH6) ENSP00000514752.1:n.2330-2016G>T
ENST00000700005.1:n.2206G>T (MSH6)
ENST00000700006.1:n.2203G>T (MSH6)
ENST00000700007.1:n.1360G>T (MSH6)
ENST00000700008.1:n.934G>T (MSH6)
ENST00000700009.1:n.933G>T (MSH6)
ENST00000700010.1:n.764G>T (MSH6)
ENST00000700011.1:n.835G>T (MSH6)
ENST00000234420.11:c.3355G>T (MSH6) MANE Select ENSP00000234420.5:p.Glu1119Ter
ENST00000540021.6:c.2965G>T (MSH6) ENSP00000446475.1:p.Glu989Ter
ENST00000652107.1:c.3058G>T (MSH6) ENSP00000498629.1:p.Glu1020Ter
ENST00000673637.1:c.3058G>T (MSH6) ENSP00000501310.1:p.Glu1020Ter
ENST00000234420.9:c.3355G>T (MSH6) ENSP00000234420.4:p.Glu1119Ter
ENST00000405808.5:c.169+4593C>A (FBXO11) ENSP00000385127.1:n.169+4593C>A
ENST00000434234.5:c.*124+4392C>A (FBXO11) ENSP00000402692.1:n.*124+4392C>A
ENST00000445503.5:c.*2702G>T (MSH6) ENSP00000405294.1:n.*2702G>T
ENST00000538136.1:c.2449G>T (MSH6) ENSP00000438580.1:p.Glu817Ter
ENST00000540021.5:c.2965G>T (MSH6) ENSP00000446475.1:p.Glu989Ter
ENST00000614496.4:c.2449G>T (MSH6) ENSP00000477844.1:p.Glu817Ter
ENST00000622629.4:c.259G>T (MSH6) ENSP00000482078.1:p.Glu87Ter
NM_000179.2:c.3355G>T , LRG_219t1:c.3355G>T (MSH6) NP_000170.1:p.Glu1119Ter
NM_001281492.1:c.2965G>T (MSH6) NP_001268421.1:p.Glu989Ter
NM_001281493.1:c.2449G>T (MSH6) NP_001268422.1:p.Glu817Ter
NM_001281494.1:c.2449G>T (MSH6) NP_001268423.1:p.Glu817Ter
XM_005264271.1:c.3058G>T (MSH6) XP_005264328.1:p.Glu1020Ter
XM_011532798.1:c.3172G>T (MSH6) XP_011531100.1:p.Glu1058Ter
XM_011532799.1:c.3058G>T (MSH6) XP_011531101.1:p.Glu1020Ter
XM_011532800.1:c.3058G>T (MSH6) XP_011531102.1:p.Glu1020Ter
XM_024452819.1:c.3355G>T (MSH6) XP_024308587.1:p.Glu1119Ter
XM_024452820.1:c.3172G>T (MSH6) XP_024308588.1:p.Glu1058Ter
XM_024452821.1:c.3058G>T (MSH6) XP_024308589.1:p.Glu1020Ter
XM_024452822.1:c.2449G>T (MSH6) XP_024308590.1:p.Glu817Ter
NM_000179.3:c.3355G>T (MSH6) MANE Select NP_000170.1:p.Glu1119Ter
NM_001281492.2:c.2965G>T (MSH6) NP_001268421.1:p.Glu989Ter
NM_001281493.2:c.2449G>T (MSH6) NP_001268422.1:p.Glu817Ter
NM_001281494.2:c.2449G>T (MSH6) NP_001268423.1:p.Glu817Ter