Canonical Allele Identifier: CA346761528

Linked Data

dbSNP Id: rs946147823

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806603G>T , CM000664.2:g.47806603G>T GRCh38
NC_000002.11:g.48033742G>T , CM000664.1:g.48033742G>T GRCh37
NC_000002.10:g.47887246G>T NCBI36
NG_007111.1:g.28457G>T , LRG_219:g.28457G>T
NG_008397.1:g.104073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3656G>T (MSH6) ENSP00000406248.2:p.Arg1219Ile
ENST00000420813.6:c.3656G>T (MSH6) ENSP00000390382.2:p.Arg1219Ile
ENST00000455383.6:c.3656G>T (MSH6) ENSP00000397484.2:p.Arg1219Ile
ENST00000700004.2:c.3569G>T (MSH6) ENSP00000514752.2:p.Arg1190Ile
ENST00000699999.1:n.4627G>T (MSH6)
ENST00000700000.1:c.2387G>T (MSH6) ENSP00000514749.1:p.Arg796Ile
ENST00000700002.1:c.3959G>T (MSH6) ENSP00000514750.1:p.Arg1320Ile
ENST00000700003.1:c.1408G>T (MSH6) ENSP00000514751.1:n.1408G>T
ENST00000700004.1:c.2726G>T (MSH6) ENSP00000514752.1:p.Arg909Ile
ENST00000700005.1:n.2804G>T (MSH6)
ENST00000700006.1:n.5111G>T (MSH6)
ENST00000700007.1:n.2548G>T (MSH6)
ENST00000700008.1:n.2215G>T (MSH6)
ENST00000700009.1:n.2617G>T (MSH6)
ENST00000700010.1:n.1362G>T (MSH6)
ENST00000700011.1:n.3247G>T (MSH6)
ENST00000682451.1:n.4145C>A (FBXO11)
ENST00000684712.1:n.4407C>A (FBXO11)
ENST00000234420.11:c.3953G>T (MSH6) MANE Select ENSP00000234420.5:p.Arg1318Ile
ENST00000540021.6:c.3563G>T (MSH6) ENSP00000446475.1:p.Arg1188Ile
ENST00000652107.1:c.3656G>T (MSH6) ENSP00000498629.1:p.Arg1219Ile
ENST00000673637.1:c.3656G>T (MSH6) ENSP00000501310.1:p.Arg1219Ile
ENST00000234420.9:c.3953G>T (MSH6) ENSP00000234420.4:p.Arg1318Ile
ENST00000405808.5:c.169+1592C>A (FBXO11) ENSP00000385127.1:n.169+1592C>A
ENST00000434234.5:c.*124+1391C>A (FBXO11) ENSP00000402692.1:n.*124+1391C>A
ENST00000445503.5:c.*3300G>T (MSH6) ENSP00000405294.1:n.*3300G>T
ENST00000538136.1:c.3047G>T (MSH6) ENSP00000438580.1:p.Arg1016Ile
ENST00000540021.5:c.3563G>T (MSH6) ENSP00000446475.1:p.Arg1188Ile
ENST00000614496.4:c.3047G>T (MSH6) ENSP00000477844.1:p.Arg1016Ile
ENST00000622629.4:c.854G>T (MSH6) ENSP00000482078.1:p.Arg285Ile
NM_000179.2:c.3953G>T , LRG_219t1:c.3953G>T (MSH6) NP_000170.1:p.Arg1318Ile
NM_001281492.1:c.3563G>T (MSH6) NP_001268421.1:p.Arg1188Ile
NM_001281493.1:c.3047G>T (MSH6) NP_001268422.1:p.Arg1016Ile
NM_001281494.1:c.3047G>T (MSH6) NP_001268423.1:p.Arg1016Ile
XM_005264271.1:c.3656G>T (MSH6) XP_005264328.1:p.Arg1219Ile
XM_011532798.1:c.3770G>T (MSH6) XP_011531100.1:p.Arg1257Ile
XM_011532799.1:c.3656G>T (MSH6) XP_011531101.1:p.Arg1219Ile
XM_011532800.1:c.3656G>T (MSH6) XP_011531102.1:p.Arg1219Ile
XM_024452819.1:c.4046G>T (MSH6) XP_024308587.1:p.Arg1349Ile
XM_024452820.1:c.3863G>T (MSH6) XP_024308588.1:p.Arg1288Ile
XM_024452821.1:c.3749G>T (MSH6) XP_024308589.1:p.Arg1250Ile
XM_024452822.1:c.3140G>T (MSH6) XP_024308590.1:p.Arg1047Ile
NM_000179.3:c.3953G>T (MSH6) MANE Select NP_000170.1:p.Arg1318Ile
NM_001281492.2:c.3563G>T (MSH6) NP_001268421.1:p.Arg1188Ile
NM_001281493.2:c.3047G>T (MSH6) NP_001268422.1:p.Arg1016Ile
NM_001281494.2:c.3047G>T (MSH6) NP_001268423.1:p.Arg1016Ile