Canonical Allele Identifier: CA346749382

Linked Data

ClinVar Variation Id: 1780582
ClinVar RCV Id: RCV002410175
dbSNP Id: rs1669375976

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799793G>T , CM000664.2:g.47799793G>T GRCh38
NC_000002.11:g.48026932G>T , CM000664.1:g.48026932G>T GRCh37
NC_000002.10:g.47880436G>T NCBI36
NG_007111.1:g.21647G>T , LRG_219:g.21647G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1513G>T (MSH6) ENSP00000406248.2:p.Glu505Ter
ENST00000420813.6:c.1513G>T (MSH6) ENSP00000390382.2:p.Glu505Ter
ENST00000455383.6:c.1513G>T (MSH6) ENSP00000397484.2:p.Glu505Ter
ENST00000700004.2:c.1810G>T (MSH6) ENSP00000514752.2:p.Glu604Ter
ENST00000699999.1:n.1894G>T (MSH6)
ENST00000700000.1:c.1606+204G>T (MSH6) ENSP00000514749.1:n.1606+204G>T
ENST00000700002.1:c.1816G>T (MSH6) ENSP00000514750.1:p.Glu606Ter
ENST00000700003.1:c.628-3627G>T (MSH6) ENSP00000514751.1:n.628-3627G>T
ENST00000700004.1:c.967G>T (MSH6) ENSP00000514752.1:p.Glu323Ter
ENST00000234420.11:c.1810G>T (MSH6) MANE Select ENSP00000234420.5:p.Glu604Ter
ENST00000540021.6:c.1420G>T (MSH6) ENSP00000446475.1:p.Glu474Ter
ENST00000652107.1:c.1513G>T (MSH6) ENSP00000498629.1:p.Glu505Ter
ENST00000673637.1:c.1513G>T (MSH6) ENSP00000501310.1:p.Glu505Ter
ENST00000234420.9:c.1810G>T (MSH6) ENSP00000234420.4:p.Glu604Ter
ENST00000405808.5:c.169+8402C>A (FBXO11) ENSP00000385127.1:n.169+8402C>A
ENST00000434234.5:c.*124+8201C>A (FBXO11) ENSP00000402692.1:n.*124+8201C>A
ENST00000445503.5:c.*1157G>T (MSH6) ENSP00000405294.1:n.*1157G>T
ENST00000538136.1:c.904G>T (MSH6) ENSP00000438580.1:p.Glu302Ter
ENST00000540021.5:c.1420G>T (MSH6) ENSP00000446475.1:p.Glu474Ter
ENST00000614496.4:c.904G>T (MSH6) ENSP00000477844.1:p.Glu302Ter
ENST00000616033.4:c.1807G>T (MSH6) ENSP00000480261.1:p.Glu603Ter
ENST00000622629.4:c.-1287G>T (MSH6) ENSP00000482078.1:n.-1287G>T
NM_000179.2:c.1810G>T , LRG_219t1:c.1810G>T (MSH6) NP_000170.1:p.Glu604Ter
NM_001281492.1:c.1420G>T (MSH6) NP_001268421.1:p.Glu474Ter
NM_001281493.1:c.904G>T (MSH6) NP_001268422.1:p.Glu302Ter
NM_001281494.1:c.904G>T (MSH6) NP_001268423.1:p.Glu302Ter
XM_005264271.1:c.1513G>T (MSH6) XP_005264328.1:p.Glu505Ter
XM_011532798.1:c.1627G>T (MSH6) XP_011531100.1:p.Glu543Ter
XM_011532799.1:c.1513G>T (MSH6) XP_011531101.1:p.Glu505Ter
XM_011532800.1:c.1513G>T (MSH6) XP_011531102.1:p.Glu505Ter
XM_024452819.1:c.1810G>T (MSH6) XP_024308587.1:p.Glu604Ter
XM_024452820.1:c.1627G>T (MSH6) XP_024308588.1:p.Glu543Ter
XM_024452821.1:c.1513G>T (MSH6) XP_024308589.1:p.Glu505Ter
XM_024452822.1:c.904G>T (MSH6) XP_024308590.1:p.Glu302Ter
NM_000179.3:c.1810G>T (MSH6) MANE Select NP_000170.1:p.Glu604Ter
NM_001281492.2:c.1420G>T (MSH6) NP_001268421.1:p.Glu474Ter
NM_001281493.2:c.904G>T (MSH6) NP_001268422.1:p.Glu302Ter
NM_001281494.2:c.904G>T (MSH6) NP_001268423.1:p.Glu302Ter