Canonical Allele Identifier: CA349512637

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552665G>T , CM000664.2:g.178552665G>T GRCh38
NC_000002.11:g.179417392G>T , CM000664.1:g.179417392G>T GRCh37
NC_000002.10:g.179125638G>T NCBI36
NG_011618.3:g.283138C>A , LRG_391:g.283138C>A
NG_051363.1:g.34839G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82531C>A (TTN) ENSP00000343764.6:p.His27511Asn
ENST00000342175.11:c.63616C>A (TTN) ENSP00000340554.6:p.His21206Asn
ENST00000359218.10:c.63415C>A (TTN) ENSP00000352154.5:p.His21139Asn
ENST00000342175.10:c.63616C>A (TTN) ENSP00000340554.6:p.His21206Asn
ENST00000342992.10:c.82531C>A (TTN) ENSP00000343764.6:p.His27511Asn
ENST00000359218.9:c.63415C>A (TTN) ENSP00000352154.5:p.His21139Asn
ENST00000460472.6:c.63040C>A (TTN) ENSP00000434586.1:p.His21014Asn
ENST00000589042.5:c.90235C>A (TTN) MANE Select ENSP00000467141.1:p.His30079Asn
ENST00000591111.5:c.85312C>A (TTN) ENSP00000465570.1:p.His28438Asn
ENST00000615779.4:c.85312C>A (TTN) ENSP00000483597.1:p.His28438Asn
NM_001256850.1:c.85312C>A (TTN) NP_001243779.1:p.His28438Asn
NM_001267550.2:c.90235C>A (TTN) MANE Select NP_001254479.2:p.His30079Asn
NM_003319.4:c.63040C>A (TTN) NP_003310.4:p.His21014Asn
NM_133378.4:c.82531C>A (TTN) NP_596869.4:p.His27511Asn
NM_133432.3:c.63415C>A (TTN) NP_597676.3:p.His21139Asn
NM_133437.4:c.63616C>A (TTN) NP_597681.4:p.His21206Asn
NR_038271.1:n.447-18635G>T (TTN-AS1)
NR_038272.1:n.2043+10304G>T (TTN-AS1)
XM_011511729.1:c.89332C>A (TTN) XP_011510031.1:p.His29778Asn
XM_011511730.1:c.63226C>A (TTN) XP_011510032.1:p.His21076Asn
XM_011511731.1:c.63085C>A (TTN) XP_011510033.1:p.His21029Asn
XM_017004819.1:c.89128C>A (TTN) XP_016860308.1:p.His29710Asn
XM_017004820.1:c.84526C>A (TTN) XP_016860309.1:p.His28176Asn
XM_017004821.1:c.84523C>A (TTN) XP_016860310.1:p.His28175Asn
XM_017004822.1:c.81565C>A (TTN) XP_016860311.1:p.His27189Asn
XM_017004823.1:c.63181C>A (TTN) XP_016860312.1:p.His21061Asn
XM_024453094.1:c.84676C>A (TTN) XP_024308862.1:p.His28226Asn
XM_024453095.1:c.84673C>A (TTN) XP_024308863.1:p.His28225Asn
XM_024453096.1:c.84106C>A (TTN) XP_024308864.1:p.His28036Asn
XM_024453097.1:c.81448C>A (TTN) XP_024308865.1:p.His27150Asn
XM_024453098.1:c.81367C>A (TTN) XP_024308866.1:p.His27123Asn
XM_024453099.1:c.63130C>A (TTN) XP_024308867.1:p.His21044Asn
XM_024453100.1:c.52984C>A (TTN) XP_024308868.1:p.His17662Asn