Canonical Allele Identifier: CA349488513

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591887G>T , CM000664.2:g.178591887G>T GRCh38
NC_000002.11:g.179456614G>T , CM000664.1:g.179456614G>T GRCh37
NC_000002.10:g.179164860G>T NCBI36
NG_011618.3:g.243916C>A , LRG_391:g.243916C>A
NG_051363.1:g.74061G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52228C>A (TTN) ENSP00000343764.6:p.Pro17410Thr
ENST00000342175.11:c.33313C>A (TTN) ENSP00000340554.6:p.Pro11105Thr
ENST00000359218.10:c.33112C>A (TTN) ENSP00000352154.5:p.Pro11038Thr
ENST00000342175.10:c.33313C>A (TTN) ENSP00000340554.6:p.Pro11105Thr
ENST00000342992.10:c.52228C>A (TTN) ENSP00000343764.6:p.Pro17410Thr
ENST00000359218.9:c.33112C>A (TTN) ENSP00000352154.5:p.Pro11038Thr
ENST00000460472.6:c.32737C>A (TTN) ENSP00000434586.1:p.Pro10913Thr
ENST00000589042.5:c.59932C>A (TTN) MANE Select ENSP00000467141.1:p.Pro19978Thr
ENST00000591111.5:c.55009C>A (TTN) ENSP00000465570.1:p.Pro18337Thr
ENST00000615779.4:c.55009C>A (TTN) ENSP00000483597.1:p.Pro18337Thr
NM_001256850.1:c.55009C>A (TTN) NP_001243779.1:p.Pro18337Thr
NM_001267550.2:c.59932C>A (TTN) MANE Select NP_001254479.2:p.Pro19978Thr
NM_003319.4:c.32737C>A (TTN) NP_003310.4:p.Pro10913Thr
NM_133378.4:c.52228C>A (TTN) NP_596869.4:p.Pro17410Thr
NM_133432.3:c.33112C>A (TTN) NP_597676.3:p.Pro11038Thr
NM_133437.4:c.33313C>A (TTN) NP_597681.4:p.Pro11105Thr
NR_038271.1:n.597-5709G>T (TTN-AS1)
NR_038272.1:n.3364+573G>T (TTN-AS1)
XM_011511729.1:c.59029C>A (TTN) XP_011510031.1:p.Pro19677Thr
XM_011511730.1:c.32923C>A (TTN) XP_011510032.1:p.Pro10975Thr
XM_011511731.1:c.32782C>A (TTN) XP_011510033.1:p.Pro10928Thr
XM_017004819.1:c.58825C>A (TTN) XP_016860308.1:p.Pro19609Thr
XM_017004820.1:c.54223C>A (TTN) XP_016860309.1:p.Pro18075Thr
XM_017004821.1:c.54220C>A (TTN) XP_016860310.1:p.Pro18074Thr
XM_017004822.1:c.51262C>A (TTN) XP_016860311.1:p.Pro17088Thr
XM_017004823.1:c.32878C>A (TTN) XP_016860312.1:p.Pro10960Thr
XM_024453094.1:c.54373C>A (TTN) XP_024308862.1:p.Pro18125Thr
XM_024453095.1:c.54370C>A (TTN) XP_024308863.1:p.Pro18124Thr
XM_024453096.1:c.53803C>A (TTN) XP_024308864.1:p.Pro17935Thr
XM_024453097.1:c.51145C>A (TTN) XP_024308865.1:p.Pro17049Thr
XM_024453098.1:c.51064C>A (TTN) XP_024308866.1:p.Pro17022Thr
XM_024453099.1:c.32827C>A (TTN) XP_024308867.1:p.Pro10943Thr
XM_024453100.1:c.22681C>A (TTN) XP_024308868.1:p.Pro7561Thr