Canonical Allele Identifier: CA349488740

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591985A>T , CM000664.2:g.178591985A>T GRCh38
NC_000002.11:g.179456712A>T , CM000664.1:g.179456712A>T GRCh37
NC_000002.10:g.179164958A>T NCBI36
NG_011618.3:g.243818T>A , LRG_391:g.243818T>A
NG_051363.1:g.74159A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52215T>A (TTN) ENSP00000343764.6:p.Asp17405Glu
ENST00000342175.11:c.33300T>A (TTN) ENSP00000340554.6:p.Asp11100Glu
ENST00000359218.10:c.33099T>A (TTN) ENSP00000352154.5:p.Asp11033Glu
ENST00000342175.10:c.33300T>A (TTN) ENSP00000340554.6:p.Asp11100Glu
ENST00000342992.10:c.52215T>A (TTN) ENSP00000343764.6:p.Asp17405Glu
ENST00000359218.9:c.33099T>A (TTN) ENSP00000352154.5:p.Asp11033Glu
ENST00000460472.6:c.32724T>A (TTN) ENSP00000434586.1:p.Asp10908Glu
ENST00000589042.5:c.59919T>A (TTN) MANE Select ENSP00000467141.1:p.Asp19973Glu
ENST00000591111.5:c.54996T>A (TTN) ENSP00000465570.1:p.Asp18332Glu
ENST00000615779.4:c.54996T>A (TTN) ENSP00000483597.1:p.Asp18332Glu
NM_001256850.1:c.54996T>A (TTN) NP_001243779.1:p.Asp18332Glu
NM_001267550.2:c.59919T>A (TTN) MANE Select NP_001254479.2:p.Asp19973Glu
NM_003319.4:c.32724T>A (TTN) NP_003310.4:p.Asp10908Glu
NM_133378.4:c.52215T>A (TTN) NP_596869.4:p.Asp17405Glu
NM_133432.3:c.33099T>A (TTN) NP_597676.3:p.Asp11033Glu
NM_133437.4:c.33300T>A (TTN) NP_597681.4:p.Asp11100Glu
NR_038271.1:n.597-5611A>T (TTN-AS1)
NR_038272.1:n.3364+671A>T (TTN-AS1)
XM_011511729.1:c.59016T>A (TTN) XP_011510031.1:p.Asp19672Glu
XM_011511730.1:c.32910T>A (TTN) XP_011510032.1:p.Asp10970Glu
XM_011511731.1:c.32769T>A (TTN) XP_011510033.1:p.Asp10923Glu
XM_017004819.1:c.58812T>A (TTN) XP_016860308.1:p.Asp19604Glu
XM_017004820.1:c.54210T>A (TTN) XP_016860309.1:p.Asp18070Glu
XM_017004821.1:c.54207T>A (TTN) XP_016860310.1:p.Asp18069Glu
XM_017004822.1:c.51249T>A (TTN) XP_016860311.1:p.Asp17083Glu
XM_017004823.1:c.32865T>A (TTN) XP_016860312.1:p.Asp10955Glu
XM_024453094.1:c.54360T>A (TTN) XP_024308862.1:p.Asp18120Glu
XM_024453095.1:c.54357T>A (TTN) XP_024308863.1:p.Asp18119Glu
XM_024453096.1:c.53790T>A (TTN) XP_024308864.1:p.Asp17930Glu
XM_024453097.1:c.51132T>A (TTN) XP_024308865.1:p.Asp17044Glu
XM_024453098.1:c.51051T>A (TTN) XP_024308866.1:p.Asp17017Glu
XM_024453099.1:c.32814T>A (TTN) XP_024308867.1:p.Asp10938Glu
XM_024453100.1:c.22668T>A (TTN) XP_024308868.1:p.Asp7556Glu