Canonical Allele Identifier: CA349446382

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543344T>C , CM000664.2:g.178543344T>C GRCh38
NC_000002.11:g.179408071T>C , CM000664.1:g.179408071T>C GRCh37
NC_000002.10:g.179116317T>C NCBI36
NG_011618.3:g.292459A>G , LRG_391:g.292459A>G
NG_051363.1:g.25518T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88925A>G (TTN) ENSP00000343764.6:p.Glu29642Gly
ENST00000342175.11:c.70010A>G (TTN) ENSP00000340554.6:p.Glu23337Gly
ENST00000359218.10:c.69809A>G (TTN) ENSP00000352154.5:p.Glu23270Gly
ENST00000342175.10:c.70010A>G (TTN) ENSP00000340554.6:p.Glu23337Gly
ENST00000342992.10:c.88925A>G (TTN) ENSP00000343764.6:p.Glu29642Gly
ENST00000359218.9:c.69809A>G (TTN) ENSP00000352154.5:p.Glu23270Gly
ENST00000460472.6:c.69434A>G (TTN) ENSP00000434586.1:p.Glu23145Gly
ENST00000589042.5:c.96629A>G (TTN) MANE Select ENSP00000467141.1:p.Glu32210Gly
ENST00000591111.5:c.91706A>G (TTN) ENSP00000465570.1:p.Glu30569Gly
ENST00000615779.4:c.91706A>G (TTN) ENSP00000483597.1:p.Glu30569Gly
NM_001256850.1:c.91706A>G (TTN) NP_001243779.1:p.Glu30569Gly
NM_001267550.2:c.96629A>G (TTN) MANE Select NP_001254479.2:p.Glu32210Gly
NM_003319.4:c.69434A>G (TTN) NP_003310.4:p.Glu23145Gly
NM_133378.4:c.88925A>G (TTN) NP_596869.4:p.Glu29642Gly
NM_133432.3:c.69809A>G (TTN) NP_597676.3:p.Glu23270Gly
NM_133437.4:c.70010A>G (TTN) NP_597681.4:p.Glu23337Gly
NR_038271.1:n.446+19708T>C (TTN-AS1)
NR_038272.1:n.2043+983T>C (TTN-AS1)
XM_011511729.1:c.95726A>G (TTN) XP_011510031.1:p.Glu31909Gly
XM_011511730.1:c.69620A>G (TTN) XP_011510032.1:p.Glu23207Gly
XM_011511731.1:c.69479A>G (TTN) XP_011510033.1:p.Glu23160Gly
XM_017004819.1:c.95522A>G (TTN) XP_016860308.1:p.Glu31841Gly
XM_017004820.1:c.90920A>G (TTN) XP_016860309.1:p.Glu30307Gly
XM_017004821.1:c.90917A>G (TTN) XP_016860310.1:p.Glu30306Gly
XM_017004822.1:c.87959A>G (TTN) XP_016860311.1:p.Glu29320Gly
XM_017004823.1:c.69575A>G (TTN) XP_016860312.1:p.Glu23192Gly
XM_024453094.1:c.91070A>G (TTN) XP_024308862.1:p.Glu30357Gly
XM_024453095.1:c.91067A>G (TTN) XP_024308863.1:p.Glu30356Gly
XM_024453096.1:c.90500A>G (TTN) XP_024308864.1:p.Glu30167Gly
XM_024453097.1:c.87842A>G (TTN) XP_024308865.1:p.Glu29281Gly
XM_024453098.1:c.87761A>G (TTN) XP_024308866.1:p.Glu29254Gly
XM_024453099.1:c.69524A>G (TTN) XP_024308867.1:p.Glu23175Gly
XM_024453100.1:c.59378A>G (TTN) XP_024308868.1:p.Glu19793Gly