Canonical Allele Identifier: CA008679
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 89196
ClinVar RCV Id: RCV000074658
dbSNP Id: rs267608046

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799460G>T , CM000664.2:g.47799460G>T GRCh38
NC_000002.11:g.48026599G>T , CM000664.1:g.48026599G>T GRCh37
NC_000002.10:g.47880103G>T NCBI36
NG_007111.1:g.21314G>T , LRG_219:g.21314G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1477G>T MANE Select ENSP00000234420.5:p.Glu493Ter
ENST00000540021.6:c.1087G>T ENSP00000446475.1:p.Glu363Ter
ENST00000652107.1:c.1180G>T ENSP00000498629.1:p.Glu394Ter
ENST00000673637.1:c.1180G>T ENSP00000501310.1:p.Glu394Ter
ENST00000234420.9:c.1477G>T ENSP00000234420.4:p.Glu493Ter
ENST00000405808.5:c.169+8735C>A ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8534C>A ENSP00000402692.1:p.=
ENST00000445503.5:c.*824G>T ENSP00000405294.1:p.=
ENST00000538136.1:c.571G>T ENSP00000438580.1:p.Glu191Ter
ENST00000540021.5:c.1087G>T ENSP00000446475.1:p.Glu363Ter
ENST00000614496.4:c.571G>T ENSP00000477844.1:p.Glu191Ter
ENST00000616033.4:c.1474G>T ENSP00000480261.1:p.Glu492Ter
ENST00000622629.4:c.-1620G>T ENSP00000482078.1:p.=
NM_000179.2:c.1477G>T , LRG_219t1:c.1477G>T NP_000170.1:p.Glu493Ter
NM_001281492.1:c.1087G>T NP_001268421.1:p.Glu363Ter
NM_001281493.1:c.571G>T NP_001268422.1:p.Glu191Ter
NM_001281494.1:c.571G>T NP_001268423.1:p.Glu191Ter
XM_005264271.1:c.1180G>T XP_005264328.1:p.Glu394Ter
XM_011532798.1:c.1294G>T XP_011531100.1:p.Glu432Ter
XM_011532799.1:c.1180G>T XP_011531101.1:p.Glu394Ter
XM_011532800.1:c.1180G>T XP_011531102.1:p.Glu394Ter
XM_024452819.1:c.1477G>T XP_024308587.1:p.Glu493Ter
XM_024452820.1:c.1294G>T XP_024308588.1:p.Glu432Ter
XM_024452821.1:c.1180G>T XP_024308589.1:p.Glu394Ter
XM_024452822.1:c.571G>T XP_024308590.1:p.Glu191Ter
NM_000179.3:c.1477G>T MANE Select NP_000170.1:p.Glu493Ter
NM_001281492.2:c.1087G>T NP_001268421.1:p.Glu363Ter
NM_001281493.2:c.571G>T NP_001268422.1:p.Glu191Ter
NM_001281494.2:c.571G>T NP_001268423.1:p.Glu191Ter