Canonical Allele Identifier: CA16610981

Linked Data

ClinVar Variation Id: 416133
dbSNP Id: rs745772518

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799699G>A , CM000664.2:g.47799699G>A GRCh38
NC_000002.11:g.48026838G>A , CM000664.1:g.48026838G>A GRCh37
NC_000002.10:g.47880342G>A NCBI36
NG_007111.1:g.21553G>A , LRG_219:g.21553G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1419G>A (MSH6) ENSP00000406248.2:p.Gln473=
ENST00000420813.6:c.1419G>A (MSH6) ENSP00000390382.2:p.Gln473=
ENST00000455383.6:c.1419G>A (MSH6) ENSP00000397484.2:p.Gln473=
ENST00000700004.2:c.1716G>A (MSH6) ENSP00000514752.2:p.Gln572=
ENST00000699999.1:n.1800G>A (MSH6)
ENST00000700000.1:c.1606+110G>A (MSH6) ENSP00000514749.1:n.1606+110G>A
ENST00000700002.1:c.1722G>A (MSH6) ENSP00000514750.1:p.Gln574=
ENST00000700003.1:c.627+3636G>A (MSH6) ENSP00000514751.1:n.627+3636G>A
ENST00000700004.1:c.873G>A (MSH6) ENSP00000514752.1:p.Gln291=
ENST00000234420.11:c.1716G>A (MSH6) MANE Select ENSP00000234420.5:p.Gln572=
ENST00000540021.6:c.1326G>A (MSH6) ENSP00000446475.1:p.Gln442=
ENST00000652107.1:c.1419G>A (MSH6) ENSP00000498629.1:p.Gln473=
ENST00000673637.1:c.1419G>A (MSH6) ENSP00000501310.1:p.Gln473=
ENST00000234420.9:c.1716G>A (MSH6) ENSP00000234420.4:p.Gln572=
ENST00000405808.5:c.169+8496C>T (FBXO11) ENSP00000385127.1:n.169+8496C>T
ENST00000434234.5:c.*124+8295C>T (FBXO11) ENSP00000402692.1:n.*124+8295C>T
ENST00000445503.5:c.*1063G>A (MSH6) ENSP00000405294.1:n.*1063G>A
ENST00000538136.1:c.810G>A (MSH6) ENSP00000438580.1:p.Gln270=
ENST00000540021.5:c.1326G>A (MSH6) ENSP00000446475.1:p.Gln442=
ENST00000614496.4:c.810G>A (MSH6) ENSP00000477844.1:p.Gln270=
ENST00000616033.4:c.1713G>A (MSH6) ENSP00000480261.1:p.Gln571=
ENST00000622629.4:c.-1381G>A (MSH6) ENSP00000482078.1:n.-1381G>A
NM_000179.2:c.1716G>A , LRG_219t1:c.1716G>A (MSH6) NP_000170.1:p.Gln572=
NM_001281492.1:c.1326G>A (MSH6) NP_001268421.1:p.Gln442=
NM_001281493.1:c.810G>A (MSH6) NP_001268422.1:p.Gln270=
NM_001281494.1:c.810G>A (MSH6) NP_001268423.1:p.Gln270=
XM_005264271.1:c.1419G>A (MSH6) XP_005264328.1:p.Gln473=
XM_011532798.1:c.1533G>A (MSH6) XP_011531100.1:p.Gln511=
XM_011532799.1:c.1419G>A (MSH6) XP_011531101.1:p.Gln473=
XM_011532800.1:c.1419G>A (MSH6) XP_011531102.1:p.Gln473=
XM_024452819.1:c.1716G>A (MSH6) XP_024308587.1:p.Gln572=
XM_024452820.1:c.1533G>A (MSH6) XP_024308588.1:p.Gln511=
XM_024452821.1:c.1419G>A (MSH6) XP_024308589.1:p.Gln473=
XM_024452822.1:c.810G>A (MSH6) XP_024308590.1:p.Gln270=
NM_000179.3:c.1716G>A (MSH6) MANE Select NP_000170.1:p.Gln572=
NM_001281492.2:c.1326G>A (MSH6) NP_001268421.1:p.Gln442=
NM_001281493.2:c.810G>A (MSH6) NP_001268422.1:p.Gln270=
NM_001281494.2:c.810G>A (MSH6) NP_001268423.1:p.Gln270=