Canonical Allele Identifier: CA349479286

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590911G>T , CM000664.2:g.178590911G>T GRCh38
NC_000002.11:g.179455638G>T , CM000664.1:g.179455638G>T GRCh37
NC_000002.10:g.179163884G>T NCBI36
NG_011618.3:g.244892C>A , LRG_391:g.244892C>A
NG_051363.1:g.73085G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53110C>A (TTN) ENSP00000343764.6:p.Pro17704Thr
ENST00000342175.11:c.34195C>A (TTN) ENSP00000340554.6:p.Pro11399Thr
ENST00000359218.10:c.33994C>A (TTN) ENSP00000352154.5:p.Pro11332Thr
ENST00000342175.10:c.34195C>A (TTN) ENSP00000340554.6:p.Pro11399Thr
ENST00000342992.10:c.53110C>A (TTN) ENSP00000343764.6:p.Pro17704Thr
ENST00000359218.9:c.33994C>A (TTN) ENSP00000352154.5:p.Pro11332Thr
ENST00000460472.6:c.33619C>A (TTN) ENSP00000434586.1:p.Pro11207Thr
ENST00000589042.5:c.60814C>A (TTN) MANE Select ENSP00000467141.1:p.Pro20272Thr
ENST00000591111.5:c.55891C>A (TTN) ENSP00000465570.1:p.Pro18631Thr
ENST00000615779.4:c.55891C>A (TTN) ENSP00000483597.1:p.Pro18631Thr
NM_001256850.1:c.55891C>A (TTN) NP_001243779.1:p.Pro18631Thr
NM_001267550.2:c.60814C>A (TTN) MANE Select NP_001254479.2:p.Pro20272Thr
NM_003319.4:c.33619C>A (TTN) NP_003310.4:p.Pro11207Thr
NM_133378.4:c.53110C>A (TTN) NP_596869.4:p.Pro17704Thr
NM_133432.3:c.33994C>A (TTN) NP_597676.3:p.Pro11332Thr
NM_133437.4:c.34195C>A (TTN) NP_597681.4:p.Pro11399Thr
NR_038271.1:n.597-6685G>T (TTN-AS1)
NR_038272.1:n.3189-228G>T (TTN-AS1)
XM_011511729.1:c.59911C>A (TTN) XP_011510031.1:p.Pro19971Thr
XM_011511730.1:c.33805C>A (TTN) XP_011510032.1:p.Pro11269Thr
XM_011511731.1:c.33664C>A (TTN) XP_011510033.1:p.Pro11222Thr
XM_017004819.1:c.59707C>A (TTN) XP_016860308.1:p.Pro19903Thr
XM_017004820.1:c.55105C>A (TTN) XP_016860309.1:p.Pro18369Thr
XM_017004821.1:c.55102C>A (TTN) XP_016860310.1:p.Pro18368Thr
XM_017004822.1:c.52144C>A (TTN) XP_016860311.1:p.Pro17382Thr
XM_017004823.1:c.33760C>A (TTN) XP_016860312.1:p.Pro11254Thr
XM_024453094.1:c.55255C>A (TTN) XP_024308862.1:p.Pro18419Thr
XM_024453095.1:c.55252C>A (TTN) XP_024308863.1:p.Pro18418Thr
XM_024453096.1:c.54685C>A (TTN) XP_024308864.1:p.Pro18229Thr
XM_024453097.1:c.52027C>A (TTN) XP_024308865.1:p.Pro17343Thr
XM_024453098.1:c.51946C>A (TTN) XP_024308866.1:p.Pro17316Thr
XM_024453099.1:c.33709C>A (TTN) XP_024308867.1:p.Pro11237Thr
XM_024453100.1:c.23563C>A (TTN) XP_024308868.1:p.Pro7855Thr