Canonical Allele Identifier: CA349423567

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579673G>T , CM000664.2:g.178579673G>T GRCh38
NC_000002.11:g.179444400G>T , CM000664.1:g.179444400G>T GRCh37
NC_000002.10:g.179152646G>T NCBI36
NG_011618.3:g.256130C>A , LRG_391:g.256130C>A
NG_051363.1:g.61847G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59820C>A (TTN) ENSP00000343764.6:p.Tyr19940Ter
ENST00000342175.11:c.40905C>A (TTN) ENSP00000340554.6:p.Tyr13635Ter
ENST00000359218.10:c.40704C>A (TTN) ENSP00000352154.5:p.Tyr13568Ter
ENST00000342175.10:c.40905C>A (TTN) ENSP00000340554.6:p.Tyr13635Ter
ENST00000342992.10:c.59820C>A (TTN) ENSP00000343764.6:p.Tyr19940Ter
ENST00000359218.9:c.40704C>A (TTN) ENSP00000352154.5:p.Tyr13568Ter
ENST00000460472.6:c.40329C>A (TTN) ENSP00000434586.1:p.Tyr13443Ter
ENST00000589042.5:c.67524C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr22508Ter
ENST00000591111.5:c.62601C>A (TTN) ENSP00000465570.1:p.Tyr20867Ter
ENST00000615779.4:c.62601C>A (TTN) ENSP00000483597.1:p.Tyr20867Ter
NM_001256850.1:c.62601C>A (TTN) NP_001243779.1:p.Tyr20867Ter
NM_001267550.2:c.67524C>A (TTN) MANE Select NP_001254479.2:p.Tyr22508Ter
NM_003319.4:c.40329C>A (TTN) NP_003310.4:p.Tyr13443Ter
NM_133378.4:c.59820C>A (TTN) NP_596869.4:p.Tyr19940Ter
NM_133432.3:c.40704C>A (TTN) NP_597676.3:p.Tyr13568Ter
NM_133437.4:c.40905C>A (TTN) NP_597681.4:p.Tyr13635Ter
NR_038271.1:n.596+8224G>T (TTN-AS1)
NR_038272.1:n.2044-2899G>T (TTN-AS1)
XM_011511729.1:c.66621C>A (TTN) XP_011510031.1:p.Tyr22207Ter
XM_011511730.1:c.40515C>A (TTN) XP_011510032.1:p.Tyr13505Ter
XM_011511731.1:c.40374C>A (TTN) XP_011510033.1:p.Tyr13458Ter
XM_017004819.1:c.66417C>A (TTN) XP_016860308.1:p.Tyr22139Ter
XM_017004820.1:c.61815C>A (TTN) XP_016860309.1:p.Tyr20605Ter
XM_017004821.1:c.61812C>A (TTN) XP_016860310.1:p.Tyr20604Ter
XM_017004822.1:c.58854C>A (TTN) XP_016860311.1:p.Tyr19618Ter
XM_017004823.1:c.40470C>A (TTN) XP_016860312.1:p.Tyr13490Ter
XM_024453094.1:c.61965C>A (TTN) XP_024308862.1:p.Tyr20655Ter
XM_024453095.1:c.61962C>A (TTN) XP_024308863.1:p.Tyr20654Ter
XM_024453096.1:c.61395C>A (TTN) XP_024308864.1:p.Tyr20465Ter
XM_024453097.1:c.58737C>A (TTN) XP_024308865.1:p.Tyr19579Ter
XM_024453098.1:c.58656C>A (TTN) XP_024308866.1:p.Tyr19552Ter
XM_024453099.1:c.40419C>A (TTN) XP_024308867.1:p.Tyr13473Ter
XM_024453100.1:c.30273C>A (TTN) XP_024308868.1:p.Tyr10091Ter