Canonical Allele Identifier: CA1310521132

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543862T= , CM000664.2:g.178543862T= GRCh38
NC_000002.11:g.179408589T= , CM000664.1:g.179408589T= GRCh37
NC_000002.10:g.179116835T= NCBI36
NG_011618.3:g.291941A= , LRG_391:g.291941A=
NG_051363.1:g.26036T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88578A= (TTN) ENSP00000343764.6:p.Lys29526=
ENST00000342175.11:c.69663A= (TTN) ENSP00000340554.6:p.Lys23221=
ENST00000359218.10:c.69462A= (TTN) ENSP00000352154.5:p.Lys23154=
ENST00000342175.10:c.69663A= (TTN) ENSP00000340554.6:p.Lys23221=
ENST00000342992.10:c.88578A= (TTN) ENSP00000343764.6:p.Lys29526=
ENST00000359218.9:c.69462A= (TTN) ENSP00000352154.5:p.Lys23154=
ENST00000460472.6:c.69087A= (TTN) ENSP00000434586.1:p.Lys23029=
ENST00000589042.5:c.96282A= (TTN) MANE Select ENSP00000467141.1:p.Lys32094=
ENST00000591111.5:c.91359A= (TTN) ENSP00000465570.1:p.Lys30453=
ENST00000615779.4:c.91359A= (TTN) ENSP00000483597.1:p.Lys30453=
NM_001256850.1:c.91359A= (TTN) NP_001243779.1:p.Lys30453=
NM_001267550.2:c.96282A= (TTN) MANE Select NP_001254479.2:p.Lys32094=
NM_003319.4:c.69087A= (TTN) NP_003310.4:p.Lys23029=
NM_133378.4:c.88578A= (TTN) NP_596869.4:p.Lys29526=
NM_133432.3:c.69462A= (TTN) NP_597676.3:p.Lys23154=
NM_133437.4:c.69663A= (TTN) NP_597681.4:p.Lys23221=
NR_038271.1:n.446+20226T= (TTN-AS1)
NR_038272.1:n.2043+1501T= (TTN-AS1)
XM_011511729.1:c.95379A= (TTN) XP_011510031.1:p.Lys31793=
XM_011511730.1:c.69273A= (TTN) XP_011510032.1:p.Lys23091=
XM_011511731.1:c.69132A= (TTN) XP_011510033.1:p.Lys23044=
XM_017004819.1:c.95175A= (TTN) XP_016860308.1:p.Lys31725=
XM_017004820.1:c.90573A= (TTN) XP_016860309.1:p.Lys30191=
XM_017004821.1:c.90570A= (TTN) XP_016860310.1:p.Lys30190=
XM_017004822.1:c.87612A= (TTN) XP_016860311.1:p.Lys29204=
XM_017004823.1:c.69228A= (TTN) XP_016860312.1:p.Lys23076=
XM_024453094.1:c.90723A= (TTN) XP_024308862.1:p.Lys30241=
XM_024453095.1:c.90720A= (TTN) XP_024308863.1:p.Lys30240=
XM_024453096.1:c.90153A= (TTN) XP_024308864.1:p.Lys30051=
XM_024453097.1:c.87495A= (TTN) XP_024308865.1:p.Lys29165=
XM_024453098.1:c.87414A= (TTN) XP_024308866.1:p.Lys29138=
XM_024453099.1:c.69177A= (TTN) XP_024308867.1:p.Lys23059=
XM_024453100.1:c.59031A= (TTN) XP_024308868.1:p.Lys19677=