Canonical Allele Identifier: CA346739302

Linked Data

ClinVar Variation Id: 2860052
ClinVar RCV Id: RCV003759268

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798633A>T , CM000664.2:g.47798633A>T GRCh38
NC_000002.11:g.48025772A>T , CM000664.1:g.48025772A>T GRCh37
NC_000002.10:g.47879276A>T NCBI36
NG_007111.1:g.20487A>T , LRG_219:g.20487A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.353A>T (MSH6) ENSP00000406248.2:p.Asp118Val
ENST00000420813.6:c.353A>T (MSH6) ENSP00000390382.2:p.Asp118Val
ENST00000455383.6:c.353A>T (MSH6) ENSP00000397484.2:p.Asp118Val
ENST00000700004.2:c.650A>T (MSH6) ENSP00000514752.2:p.Asp217Val
ENST00000699999.1:n.734A>T (MSH6)
ENST00000700000.1:c.650A>T (MSH6) ENSP00000514749.1:p.Asp217Val
ENST00000700002.1:c.656A>T (MSH6) ENSP00000514750.1:p.Asp219Val
ENST00000700003.1:c.627+2570A>T (MSH6) ENSP00000514751.1:n.627+2570A>T
ENST00000234420.11:c.650A>T (MSH6) MANE Select ENSP00000234420.5:p.Asp217Val
ENST00000540021.6:c.260A>T (MSH6) ENSP00000446475.1:p.Asp87Val
ENST00000652107.1:c.353A>T (MSH6) ENSP00000498629.1:p.Asp118Val
ENST00000673637.1:c.353A>T (MSH6) ENSP00000501310.1:p.Asp118Val
ENST00000673922.1:n.372A>T (MSH6)
ENST00000234420.9:c.650A>T (MSH6) ENSP00000234420.4:p.Asp217Val
ENST00000405808.5:c.170-9193T>A (FBXO11) ENSP00000385127.1:n.170-9193T>A
ENST00000411819.1:c.353A>T (MSH6) ENSP00000406248.1:p.Asp118Val
ENST00000434234.5:c.*125-9193T>A (FBXO11) ENSP00000402692.1:n.*125-9193T>A
ENST00000445503.5:c.480A>T (MSH6) ENSP00000405294.1:p.Arg160Ser
ENST00000456246.1:c.*138A>T (MSH6) ENSP00000410570.1:n.*138A>T
ENST00000538136.1:c.-257A>T (MSH6) ENSP00000438580.1:n.-257A>T
ENST00000540021.5:c.260A>T (MSH6) ENSP00000446475.1:p.Asp87Val
ENST00000614496.4:c.-257A>T (MSH6) ENSP00000477844.1:n.-257A>T
ENST00000616033.4:c.647A>T (MSH6) ENSP00000480261.1:p.Asp216Val
ENST00000622629.4:c.-2447A>T (MSH6) ENSP00000482078.1:n.-2447A>T
NM_000179.2:c.650A>T , LRG_219t1:c.650A>T (MSH6) NP_000170.1:p.Asp217Val
NM_001281492.1:c.260A>T (MSH6) NP_001268421.1:p.Asp87Val
NM_001281493.1:c.-257A>T (MSH6) NP_001268422.1:n.-257A>T
NM_001281494.1:c.-257A>T (MSH6) NP_001268423.1:n.-257A>T
XM_005264271.1:c.353A>T (MSH6) XP_005264328.1:p.Asp118Val
XM_011532798.1:c.467A>T (MSH6) XP_011531100.1:p.Asp156Val
XM_011532799.1:c.353A>T (MSH6) XP_011531101.1:p.Asp118Val
XM_011532800.1:c.353A>T (MSH6) XP_011531102.1:p.Asp118Val
XM_024452819.1:c.650A>T (MSH6) XP_024308587.1:p.Asp217Val
XM_024452820.1:c.467A>T (MSH6) XP_024308588.1:p.Asp156Val
XM_024452821.1:c.353A>T (MSH6) XP_024308589.1:p.Asp118Val
XM_024452822.1:c.-257A>T (MSH6) XP_024308590.1:n.-257A>T
NM_000179.3:c.650A>T (MSH6) MANE Select NP_000170.1:p.Asp217Val
NM_001281492.2:c.260A>T (MSH6) NP_001268421.1:p.Asp87Val
NM_001281493.2:c.-257A>T (MSH6) NP_001268422.1:n.-257A>T
NM_001281494.2:c.-257A>T (MSH6) NP_001268423.1:n.-257A>T