Canonical Allele Identifier: CA349423329

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579566T>A , CM000664.2:g.178579566T>A GRCh38
NC_000002.11:g.179444293T>A , CM000664.1:g.179444293T>A GRCh37
NC_000002.10:g.179152539T>A NCBI36
NG_011618.3:g.256237A>T , LRG_391:g.256237A>T
NG_051363.1:g.61740T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59927A>T (TTN) ENSP00000343764.6:p.Asp19976Val
ENST00000342175.11:c.41012A>T (TTN) ENSP00000340554.6:p.Asp13671Val
ENST00000359218.10:c.40811A>T (TTN) ENSP00000352154.5:p.Asp13604Val
ENST00000342175.10:c.41012A>T (TTN) ENSP00000340554.6:p.Asp13671Val
ENST00000342992.10:c.59927A>T (TTN) ENSP00000343764.6:p.Asp19976Val
ENST00000359218.9:c.40811A>T (TTN) ENSP00000352154.5:p.Asp13604Val
ENST00000460472.6:c.40436A>T (TTN) ENSP00000434586.1:p.Asp13479Val
ENST00000589042.5:c.67631A>T (TTN) MANE Select ENSP00000467141.1:p.Asp22544Val
ENST00000591111.5:c.62708A>T (TTN) ENSP00000465570.1:p.Asp20903Val
ENST00000615779.4:c.62708A>T (TTN) ENSP00000483597.1:p.Asp20903Val
NM_001256850.1:c.62708A>T (TTN) NP_001243779.1:p.Asp20903Val
NM_001267550.2:c.67631A>T (TTN) MANE Select NP_001254479.2:p.Asp22544Val
NM_003319.4:c.40436A>T (TTN) NP_003310.4:p.Asp13479Val
NM_133378.4:c.59927A>T (TTN) NP_596869.4:p.Asp19976Val
NM_133432.3:c.40811A>T (TTN) NP_597676.3:p.Asp13604Val
NM_133437.4:c.41012A>T (TTN) NP_597681.4:p.Asp13671Val
NR_038271.1:n.596+8117T>A (TTN-AS1)
NR_038272.1:n.2044-3006T>A (TTN-AS1)
XM_011511729.1:c.66728A>T (TTN) XP_011510031.1:p.Asp22243Val
XM_011511730.1:c.40622A>T (TTN) XP_011510032.1:p.Asp13541Val
XM_011511731.1:c.40481A>T (TTN) XP_011510033.1:p.Asp13494Val
XM_017004819.1:c.66524A>T (TTN) XP_016860308.1:p.Asp22175Val
XM_017004820.1:c.61922A>T (TTN) XP_016860309.1:p.Asp20641Val
XM_017004821.1:c.61919A>T (TTN) XP_016860310.1:p.Asp20640Val
XM_017004822.1:c.58961A>T (TTN) XP_016860311.1:p.Asp19654Val
XM_017004823.1:c.40577A>T (TTN) XP_016860312.1:p.Asp13526Val
XM_024453094.1:c.62072A>T (TTN) XP_024308862.1:p.Asp20691Val
XM_024453095.1:c.62069A>T (TTN) XP_024308863.1:p.Asp20690Val
XM_024453096.1:c.61502A>T (TTN) XP_024308864.1:p.Asp20501Val
XM_024453097.1:c.58844A>T (TTN) XP_024308865.1:p.Asp19615Val
XM_024453098.1:c.58763A>T (TTN) XP_024308866.1:p.Asp19588Val
XM_024453099.1:c.40526A>T (TTN) XP_024308867.1:p.Asp13509Val
XM_024453100.1:c.30380A>T (TTN) XP_024308868.1:p.Asp10127Val