Canonical Allele Identifier: CA346742114

Linked Data

ClinVar Variation Id: 492706
dbSNP Id: rs1432436629

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799118A>T , CM000664.2:g.47799118A>T GRCh38
NC_000002.11:g.48026257A>T , CM000664.1:g.48026257A>T GRCh37
NC_000002.10:g.47879761A>T NCBI36
NG_007111.1:g.20972A>T , LRG_219:g.20972A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.838A>T (MSH6) ENSP00000406248.2:p.Arg280Ter
ENST00000420813.6:c.838A>T (MSH6) ENSP00000390382.2:p.Arg280Ter
ENST00000455383.6:c.838A>T (MSH6) ENSP00000397484.2:p.Arg280Ter
ENST00000700004.2:c.1135A>T (MSH6) ENSP00000514752.2:p.Arg379Ter
ENST00000699999.1:n.1219A>T (MSH6)
ENST00000700000.1:c.1135A>T (MSH6) ENSP00000514749.1:p.Arg379Ter
ENST00000700002.1:c.1141A>T (MSH6) ENSP00000514750.1:p.Arg381Ter
ENST00000700003.1:c.627+3055A>T (MSH6) ENSP00000514751.1:n.627+3055A>T
ENST00000700004.1:c.292A>T (MSH6) ENSP00000514752.1:p.Arg98Ter
ENST00000234420.11:c.1135A>T (MSH6) MANE Select ENSP00000234420.5:p.Arg379Ter
ENST00000540021.6:c.745A>T (MSH6) ENSP00000446475.1:p.Arg249Ter
ENST00000652107.1:c.838A>T (MSH6) ENSP00000498629.1:p.Arg280Ter
ENST00000673637.1:c.838A>T (MSH6) ENSP00000501310.1:p.Arg280Ter
ENST00000234420.9:c.1135A>T (MSH6) ENSP00000234420.4:p.Arg379Ter
ENST00000405808.5:c.169+9077T>A (FBXO11) ENSP00000385127.1:n.169+9077T>A
ENST00000434234.5:c.*124+8876T>A (FBXO11) ENSP00000402692.1:n.*124+8876T>A
ENST00000445503.5:c.*482A>T (MSH6) ENSP00000405294.1:n.*482A>T
ENST00000538136.1:c.229A>T (MSH6) ENSP00000438580.1:p.Arg77Ter
ENST00000540021.5:c.745A>T (MSH6) ENSP00000446475.1:p.Arg249Ter
ENST00000614496.4:c.229A>T (MSH6) ENSP00000477844.1:p.Arg77Ter
ENST00000616033.4:c.1132A>T (MSH6) ENSP00000480261.1:p.Arg378Ter
ENST00000622629.4:c.-1962A>T (MSH6) ENSP00000482078.1:n.-1962A>T
NM_000179.2:c.1135A>T , LRG_219t1:c.1135A>T (MSH6) NP_000170.1:p.Arg379Ter
NM_001281492.1:c.745A>T (MSH6) NP_001268421.1:p.Arg249Ter
NM_001281493.1:c.229A>T (MSH6) NP_001268422.1:p.Arg77Ter
NM_001281494.1:c.229A>T (MSH6) NP_001268423.1:p.Arg77Ter
XM_005264271.1:c.838A>T (MSH6) XP_005264328.1:p.Arg280Ter
XM_011532798.1:c.952A>T (MSH6) XP_011531100.1:p.Arg318Ter
XM_011532799.1:c.838A>T (MSH6) XP_011531101.1:p.Arg280Ter
XM_011532800.1:c.838A>T (MSH6) XP_011531102.1:p.Arg280Ter
XM_024452819.1:c.1135A>T (MSH6) XP_024308587.1:p.Arg379Ter
XM_024452820.1:c.952A>T (MSH6) XP_024308588.1:p.Arg318Ter
XM_024452821.1:c.838A>T (MSH6) XP_024308589.1:p.Arg280Ter
XM_024452822.1:c.229A>T (MSH6) XP_024308590.1:p.Arg77Ter
NM_000179.3:c.1135A>T (MSH6) MANE Select NP_000170.1:p.Arg379Ter
NM_001281492.2:c.745A>T (MSH6) NP_001268421.1:p.Arg249Ter
NM_001281493.2:c.229A>T (MSH6) NP_001268422.1:p.Arg77Ter
NM_001281494.2:c.229A>T (MSH6) NP_001268423.1:p.Arg77Ter