Canonical Allele Identifier: CA349456116

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544320A>T , CM000664.2:g.178544320A>T GRCh38
NC_000002.11:g.179409047A>T , CM000664.1:g.179409047A>T GRCh37
NC_000002.10:g.179117293A>T NCBI36
NG_011618.3:g.291483T>A , LRG_391:g.291483T>A
NG_051363.1:g.26494A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88205T>A (TTN) ENSP00000343764.6:p.Phe29402Tyr
ENST00000342175.11:c.69290T>A (TTN) ENSP00000340554.6:p.Phe23097Tyr
ENST00000359218.10:c.69089T>A (TTN) ENSP00000352154.5:p.Phe23030Tyr
ENST00000342175.10:c.69290T>A (TTN) ENSP00000340554.6:p.Phe23097Tyr
ENST00000342992.10:c.88205T>A (TTN) ENSP00000343764.6:p.Phe29402Tyr
ENST00000359218.9:c.69089T>A (TTN) ENSP00000352154.5:p.Phe23030Tyr
ENST00000460472.6:c.68714T>A (TTN) ENSP00000434586.1:p.Phe22905Tyr
ENST00000589042.5:c.95909T>A (TTN) MANE Select ENSP00000467141.1:p.Phe31970Tyr
ENST00000591111.5:c.90986T>A (TTN) ENSP00000465570.1:p.Phe30329Tyr
ENST00000615779.4:c.90986T>A (TTN) ENSP00000483597.1:p.Phe30329Tyr
NM_001256850.1:c.90986T>A (TTN) NP_001243779.1:p.Phe30329Tyr
NM_001267550.2:c.95909T>A (TTN) MANE Select NP_001254479.2:p.Phe31970Tyr
NM_003319.4:c.68714T>A (TTN) NP_003310.4:p.Phe22905Tyr
NM_133378.4:c.88205T>A (TTN) NP_596869.4:p.Phe29402Tyr
NM_133432.3:c.69089T>A (TTN) NP_597676.3:p.Phe23030Tyr
NM_133437.4:c.69290T>A (TTN) NP_597681.4:p.Phe23097Tyr
NR_038271.1:n.446+20684A>T (TTN-AS1)
NR_038272.1:n.2043+1959A>T (TTN-AS1)
XM_011511729.1:c.95006T>A (TTN) XP_011510031.1:p.Phe31669Tyr
XM_011511730.1:c.68900T>A (TTN) XP_011510032.1:p.Phe22967Tyr
XM_011511731.1:c.68759T>A (TTN) XP_011510033.1:p.Phe22920Tyr
XM_017004819.1:c.94802T>A (TTN) XP_016860308.1:p.Phe31601Tyr
XM_017004820.1:c.90200T>A (TTN) XP_016860309.1:p.Phe30067Tyr
XM_017004821.1:c.90197T>A (TTN) XP_016860310.1:p.Phe30066Tyr
XM_017004822.1:c.87239T>A (TTN) XP_016860311.1:p.Phe29080Tyr
XM_017004823.1:c.68855T>A (TTN) XP_016860312.1:p.Phe22952Tyr
XM_024453094.1:c.90350T>A (TTN) XP_024308862.1:p.Phe30117Tyr
XM_024453095.1:c.90347T>A (TTN) XP_024308863.1:p.Phe30116Tyr
XM_024453096.1:c.89780T>A (TTN) XP_024308864.1:p.Phe29927Tyr
XM_024453097.1:c.87122T>A (TTN) XP_024308865.1:p.Phe29041Tyr
XM_024453098.1:c.87041T>A (TTN) XP_024308866.1:p.Phe29014Tyr
XM_024453099.1:c.68804T>A (TTN) XP_024308867.1:p.Phe22935Tyr
XM_024453100.1:c.58658T>A (TTN) XP_024308868.1:p.Phe19553Tyr