Canonical Allele Identifier: CA346761217

Linked Data

ClinVar Variation Id: 1171467
ClinVar RCV Id: RCV001524637
dbSNP Id: rs1379181416
gnomAD v2: 2-48033594-T-C
gnomAD v4: 2-47806455-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806455T>C , CM000664.2:g.47806455T>C GRCh38
NC_000002.11:g.48033594T>C , CM000664.1:g.48033594T>C GRCh37
NC_000002.10:g.47887098T>C NCBI36
NG_007111.1:g.28309T>C , LRG_219:g.28309T>C
NG_008397.1:g.104221A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3508T>C (MSH6) ENSP00000406248.2:p.Cys1170Arg
ENST00000420813.6:c.3508T>C (MSH6) ENSP00000390382.2:p.Cys1170Arg
ENST00000455383.6:c.3508T>C (MSH6) ENSP00000397484.2:p.Cys1170Arg
ENST00000700004.2:c.3421T>C (MSH6) ENSP00000514752.2:p.Cys1141Arg
ENST00000699999.1:n.4479T>C (MSH6)
ENST00000700000.1:c.2239T>C (MSH6) ENSP00000514749.1:p.Cys747Arg
ENST00000700002.1:c.3811T>C (MSH6) ENSP00000514750.1:p.Cys1271Arg
ENST00000700003.1:c.1260T>C (MSH6) ENSP00000514751.1:n.1260T>C
ENST00000700004.1:c.2578T>C (MSH6) ENSP00000514752.1:p.Cys860Arg
ENST00000700005.1:n.2656T>C (MSH6)
ENST00000700006.1:n.4963T>C (MSH6)
ENST00000700007.1:n.2400T>C (MSH6)
ENST00000700008.1:n.2067T>C (MSH6)
ENST00000700009.1:n.2469T>C (MSH6)
ENST00000700010.1:n.1214T>C (MSH6)
ENST00000700011.1:n.3099T>C (MSH6)
ENST00000682451.1:n.4293A>G (FBXO11)
ENST00000684712.1:n.4555A>G (FBXO11)
ENST00000234420.11:c.3805T>C (MSH6) MANE Select ENSP00000234420.5:p.Cys1269Arg
ENST00000540021.6:c.3415T>C (MSH6) ENSP00000446475.1:p.Cys1139Arg
ENST00000652107.1:c.3508T>C (MSH6) ENSP00000498629.1:p.Cys1170Arg
ENST00000673637.1:c.3508T>C (MSH6) ENSP00000501310.1:p.Cys1170Arg
ENST00000234420.9:c.3805T>C (MSH6) ENSP00000234420.4:p.Cys1269Arg
ENST00000405808.5:c.169+1740A>G (FBXO11) ENSP00000385127.1:n.169+1740A>G
ENST00000434234.5:c.*124+1539A>G (FBXO11) ENSP00000402692.1:n.*124+1539A>G
ENST00000445503.5:c.*3152T>C (MSH6) ENSP00000405294.1:n.*3152T>C
ENST00000538136.1:c.2899T>C (MSH6) ENSP00000438580.1:p.Cys967Arg
ENST00000540021.5:c.3415T>C (MSH6) ENSP00000446475.1:p.Cys1139Arg
ENST00000614496.4:c.2899T>C (MSH6) ENSP00000477844.1:p.Cys967Arg
ENST00000622629.4:c.706T>C (MSH6) ENSP00000482078.1:p.Cys236Arg
NM_000179.2:c.3805T>C , LRG_219t1:c.3805T>C (MSH6) NP_000170.1:p.Cys1269Arg
NM_001281492.1:c.3415T>C (MSH6) NP_001268421.1:p.Cys1139Arg
NM_001281493.1:c.2899T>C (MSH6) NP_001268422.1:p.Cys967Arg
NM_001281494.1:c.2899T>C (MSH6) NP_001268423.1:p.Cys967Arg
XM_005264271.1:c.3508T>C (MSH6) XP_005264328.1:p.Cys1170Arg
XM_011532798.1:c.3622T>C (MSH6) XP_011531100.1:p.Cys1208Arg
XM_011532799.1:c.3508T>C (MSH6) XP_011531101.1:p.Cys1170Arg
XM_011532800.1:c.3508T>C (MSH6) XP_011531102.1:p.Cys1170Arg
XM_024452819.1:c.3898T>C (MSH6) XP_024308587.1:p.Cys1300Arg
XM_024452820.1:c.3715T>C (MSH6) XP_024308588.1:p.Cys1239Arg
XM_024452821.1:c.3601T>C (MSH6) XP_024308589.1:p.Cys1201Arg
XM_024452822.1:c.2992T>C (MSH6) XP_024308590.1:p.Cys998Arg
NM_000179.3:c.3805T>C (MSH6) MANE Select NP_000170.1:p.Cys1269Arg
NM_001281492.2:c.3415T>C (MSH6) NP_001268421.1:p.Cys1139Arg
NM_001281493.2:c.2899T>C (MSH6) NP_001268422.1:p.Cys967Arg
NM_001281494.2:c.2899T>C (MSH6) NP_001268423.1:p.Cys967Arg