Canonical Allele Identifier: CA346748612

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799698A>C , CM000664.2:g.47799698A>C GRCh38
NC_000002.11:g.48026837A>C , CM000664.1:g.48026837A>C GRCh37
NC_000002.10:g.47880341A>C NCBI36
NG_007111.1:g.21552A>C , LRG_219:g.21552A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1418A>C (MSH6) ENSP00000406248.2:p.Gln473Pro
ENST00000420813.6:c.1418A>C (MSH6) ENSP00000390382.2:p.Gln473Pro
ENST00000455383.6:c.1418A>C (MSH6) ENSP00000397484.2:p.Gln473Pro
ENST00000700004.2:c.1715A>C (MSH6) ENSP00000514752.2:p.Gln572Pro
ENST00000699999.1:n.1799A>C (MSH6)
ENST00000700000.1:c.1606+109A>C (MSH6) ENSP00000514749.1:n.1606+109A>C
ENST00000700002.1:c.1721A>C (MSH6) ENSP00000514750.1:p.Gln574Pro
ENST00000700003.1:c.627+3635A>C (MSH6) ENSP00000514751.1:n.627+3635A>C
ENST00000700004.1:c.872A>C (MSH6) ENSP00000514752.1:p.Gln291Pro
ENST00000234420.11:c.1715A>C (MSH6) MANE Select ENSP00000234420.5:p.Gln572Pro
ENST00000540021.6:c.1325A>C (MSH6) ENSP00000446475.1:p.Gln442Pro
ENST00000652107.1:c.1418A>C (MSH6) ENSP00000498629.1:p.Gln473Pro
ENST00000673637.1:c.1418A>C (MSH6) ENSP00000501310.1:p.Gln473Pro
ENST00000234420.9:c.1715A>C (MSH6) ENSP00000234420.4:p.Gln572Pro
ENST00000405808.5:c.169+8497T>G (FBXO11) ENSP00000385127.1:n.169+8497T>G
ENST00000434234.5:c.*124+8296T>G (FBXO11) ENSP00000402692.1:n.*124+8296T>G
ENST00000445503.5:c.*1062A>C (MSH6) ENSP00000405294.1:n.*1062A>C
ENST00000538136.1:c.809A>C (MSH6) ENSP00000438580.1:p.Gln270Pro
ENST00000540021.5:c.1325A>C (MSH6) ENSP00000446475.1:p.Gln442Pro
ENST00000614496.4:c.809A>C (MSH6) ENSP00000477844.1:p.Gln270Pro
ENST00000616033.4:c.1712A>C (MSH6) ENSP00000480261.1:p.Gln571Pro
ENST00000622629.4:c.-1382A>C (MSH6) ENSP00000482078.1:n.-1382A>C
NM_000179.2:c.1715A>C , LRG_219t1:c.1715A>C (MSH6) NP_000170.1:p.Gln572Pro
NM_001281492.1:c.1325A>C (MSH6) NP_001268421.1:p.Gln442Pro
NM_001281493.1:c.809A>C (MSH6) NP_001268422.1:p.Gln270Pro
NM_001281494.1:c.809A>C (MSH6) NP_001268423.1:p.Gln270Pro
XM_005264271.1:c.1418A>C (MSH6) XP_005264328.1:p.Gln473Pro
XM_011532798.1:c.1532A>C (MSH6) XP_011531100.1:p.Gln511Pro
XM_011532799.1:c.1418A>C (MSH6) XP_011531101.1:p.Gln473Pro
XM_011532800.1:c.1418A>C (MSH6) XP_011531102.1:p.Gln473Pro
XM_024452819.1:c.1715A>C (MSH6) XP_024308587.1:p.Gln572Pro
XM_024452820.1:c.1532A>C (MSH6) XP_024308588.1:p.Gln511Pro
XM_024452821.1:c.1418A>C (MSH6) XP_024308589.1:p.Gln473Pro
XM_024452822.1:c.809A>C (MSH6) XP_024308590.1:p.Gln270Pro
NM_000179.3:c.1715A>C (MSH6) MANE Select NP_000170.1:p.Gln572Pro
NM_001281492.2:c.1325A>C (MSH6) NP_001268421.1:p.Gln442Pro
NM_001281493.2:c.809A>C (MSH6) NP_001268422.1:p.Gln270Pro
NM_001281494.2:c.809A>C (MSH6) NP_001268423.1:p.Gln270Pro