Canonical Allele Identifier: CA349507122

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594029C>T , CM000664.2:g.178594029C>T GRCh38
NC_000002.11:g.179458756C>T , CM000664.1:g.179458756C>T GRCh37
NC_000002.10:g.179167002C>T NCBI36
NG_011618.3:g.241774G>A , LRG_391:g.241774G>A
NG_051363.1:g.76203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.50660G>A (TTN) ENSP00000343764.6:p.Gly16887Asp
ENST00000342175.11:c.31745G>A (TTN) ENSP00000340554.6:p.Gly10582Asp
ENST00000359218.10:c.31544G>A (TTN) ENSP00000352154.5:p.Gly10515Asp
ENST00000342175.10:c.31745G>A (TTN) ENSP00000340554.6:p.Gly10582Asp
ENST00000342992.10:c.50660G>A (TTN) ENSP00000343764.6:p.Gly16887Asp
ENST00000359218.9:c.31544G>A (TTN) ENSP00000352154.5:p.Gly10515Asp
ENST00000460472.6:c.31169G>A (TTN) ENSP00000434586.1:p.Gly10390Asp
ENST00000589042.5:c.58364G>A (TTN) MANE Select ENSP00000467141.1:p.Gly19455Asp
ENST00000591111.5:c.53441G>A (TTN) ENSP00000465570.1:p.Gly17814Asp
ENST00000615779.4:c.53441G>A (TTN) ENSP00000483597.1:p.Gly17814Asp
NM_001256850.1:c.53441G>A (TTN) NP_001243779.1:p.Gly17814Asp
NM_001267550.2:c.58364G>A (TTN) MANE Select NP_001254479.2:p.Gly19455Asp
NM_003319.4:c.31169G>A (TTN) NP_003310.4:p.Gly10390Asp
NM_133378.4:c.50660G>A (TTN) NP_596869.4:p.Gly16887Asp
NM_133432.3:c.31544G>A (TTN) NP_597676.3:p.Gly10515Asp
NM_133437.4:c.31745G>A (TTN) NP_597681.4:p.Gly10582Asp
NR_038271.1:n.597-3567C>T (TTN-AS1)
NR_038272.1:n.3364+2715C>T (TTN-AS1)
XM_011511729.1:c.57461G>A (TTN) XP_011510031.1:p.Gly19154Asp
XM_011511730.1:c.31355G>A (TTN) XP_011510032.1:p.Gly10452Asp
XM_011511731.1:c.31214G>A (TTN) XP_011510033.1:p.Gly10405Asp
XM_017004819.1:c.57257G>A (TTN) XP_016860308.1:p.Gly19086Asp
XM_017004820.1:c.52655G>A (TTN) XP_016860309.1:p.Gly17552Asp
XM_017004821.1:c.52652G>A (TTN) XP_016860310.1:p.Gly17551Asp
XM_017004822.1:c.49694G>A (TTN) XP_016860311.1:p.Gly16565Asp
XM_017004823.1:c.31310G>A (TTN) XP_016860312.1:p.Gly10437Asp
XM_024453094.1:c.52805G>A (TTN) XP_024308862.1:p.Gly17602Asp
XM_024453095.1:c.52802G>A (TTN) XP_024308863.1:p.Gly17601Asp
XM_024453096.1:c.52235G>A (TTN) XP_024308864.1:p.Gly17412Asp
XM_024453097.1:c.49577G>A (TTN) XP_024308865.1:p.Gly16526Asp
XM_024453098.1:c.49496G>A (TTN) XP_024308866.1:p.Gly16499Asp
XM_024453099.1:c.31259G>A (TTN) XP_024308867.1:p.Gly10420Asp
XM_024453100.1:c.21113G>A (TTN) XP_024308868.1:p.Gly7038Asp