Canonical Allele Identifier: CA346755643

Linked Data

ClinVar Variation Id: 1970543
ClinVar RCV Id: RCV002760424
dbSNP Id: rs63750140

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800798C>G , CM000664.2:g.47800798C>G GRCh38
NC_000002.11:g.48027937C>G , CM000664.1:g.48027937C>G GRCh37
NC_000002.10:g.47881441C>G NCBI36
NG_007111.1:g.22652C>G , LRG_219:g.22652C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2518C>G (MSH6) ENSP00000406248.2:p.Gln840Glu
ENST00000420813.6:c.2518C>G (MSH6) ENSP00000390382.2:p.Gln840Glu
ENST00000455383.6:c.2518C>G (MSH6) ENSP00000397484.2:p.Gln840Glu
ENST00000700004.2:c.2815C>G (MSH6) ENSP00000514752.2:p.Gln939Glu
ENST00000699999.1:n.2899C>G (MSH6)
ENST00000700000.1:c.1606+1209C>G (MSH6) ENSP00000514749.1:n.1606+1209C>G
ENST00000700002.1:c.2821C>G (MSH6) ENSP00000514750.1:p.Gln941Glu
ENST00000700003.1:c.628-2622C>G (MSH6) ENSP00000514751.1:n.628-2622C>G
ENST00000700004.1:c.1972C>G (MSH6) ENSP00000514752.1:p.Gln658Glu
ENST00000234420.11:c.2815C>G (MSH6) MANE Select ENSP00000234420.5:p.Gln939Glu
ENST00000540021.6:c.2425C>G (MSH6) ENSP00000446475.1:p.Gln809Glu
ENST00000652107.1:c.2518C>G (MSH6) ENSP00000498629.1:p.Gln840Glu
ENST00000673637.1:c.2518C>G (MSH6) ENSP00000501310.1:p.Gln840Glu
ENST00000234420.9:c.2815C>G (MSH6) ENSP00000234420.4:p.Gln939Glu
ENST00000405808.5:c.169+7397G>C (FBXO11) ENSP00000385127.1:n.169+7397G>C
ENST00000434234.5:c.*124+7196G>C (FBXO11) ENSP00000402692.1:n.*124+7196G>C
ENST00000445503.5:c.*2162C>G (MSH6) ENSP00000405294.1:n.*2162C>G
ENST00000538136.1:c.1909C>G (MSH6) ENSP00000438580.1:p.Gln637Glu
ENST00000540021.5:c.2425C>G (MSH6) ENSP00000446475.1:p.Gln809Glu
ENST00000614496.4:c.1909C>G (MSH6) ENSP00000477844.1:p.Gln637Glu
ENST00000616033.4:c.2812C>G (MSH6) ENSP00000480261.1:p.Gln938Glu
ENST00000622629.4:c.-282C>G (MSH6) ENSP00000482078.1:n.-282C>G
NM_000179.2:c.2815C>G , LRG_219t1:c.2815C>G (MSH6) NP_000170.1:p.Gln939Glu
NM_001281492.1:c.2425C>G (MSH6) NP_001268421.1:p.Gln809Glu
NM_001281493.1:c.1909C>G (MSH6) NP_001268422.1:p.Gln637Glu
NM_001281494.1:c.1909C>G (MSH6) NP_001268423.1:p.Gln637Glu
XM_005264271.1:c.2518C>G (MSH6) XP_005264328.1:p.Gln840Glu
XM_011532798.1:c.2632C>G (MSH6) XP_011531100.1:p.Gln878Glu
XM_011532799.1:c.2518C>G (MSH6) XP_011531101.1:p.Gln840Glu
XM_011532800.1:c.2518C>G (MSH6) XP_011531102.1:p.Gln840Glu
XM_024452819.1:c.2815C>G (MSH6) XP_024308587.1:p.Gln939Glu
XM_024452820.1:c.2632C>G (MSH6) XP_024308588.1:p.Gln878Glu
XM_024452821.1:c.2518C>G (MSH6) XP_024308589.1:p.Gln840Glu
XM_024452822.1:c.1909C>G (MSH6) XP_024308590.1:p.Gln637Glu
NM_000179.3:c.2815C>G (MSH6) MANE Select NP_000170.1:p.Gln939Glu
NM_001281492.2:c.2425C>G (MSH6) NP_001268421.1:p.Gln809Glu
NM_001281493.2:c.1909C>G (MSH6) NP_001268422.1:p.Gln637Glu
NM_001281494.2:c.1909C>G (MSH6) NP_001268423.1:p.Gln637Glu