Canonical Allele Identifier: CA349456490

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544350T>G , CM000664.2:g.178544350T>G GRCh38
NC_000002.11:g.179409077T>G , CM000664.1:g.179409077T>G GRCh37
NC_000002.10:g.179117323T>G NCBI36
NG_011618.3:g.291453A>C , LRG_391:g.291453A>C
NG_051363.1:g.26524T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88175A>C (TTN) ENSP00000343764.6:p.His29392Pro
ENST00000342175.11:c.69260A>C (TTN) ENSP00000340554.6:p.His23087Pro
ENST00000359218.10:c.69059A>C (TTN) ENSP00000352154.5:p.His23020Pro
ENST00000342175.10:c.69260A>C (TTN) ENSP00000340554.6:p.His23087Pro
ENST00000342992.10:c.88175A>C (TTN) ENSP00000343764.6:p.His29392Pro
ENST00000359218.9:c.69059A>C (TTN) ENSP00000352154.5:p.His23020Pro
ENST00000460472.6:c.68684A>C (TTN) ENSP00000434586.1:p.His22895Pro
ENST00000589042.5:c.95879A>C (TTN) MANE Select ENSP00000467141.1:p.His31960Pro
ENST00000591111.5:c.90956A>C (TTN) ENSP00000465570.1:p.His30319Pro
ENST00000615779.4:c.90956A>C (TTN) ENSP00000483597.1:p.His30319Pro
NM_001256850.1:c.90956A>C (TTN) NP_001243779.1:p.His30319Pro
NM_001267550.2:c.95879A>C (TTN) MANE Select NP_001254479.2:p.His31960Pro
NM_003319.4:c.68684A>C (TTN) NP_003310.4:p.His22895Pro
NM_133378.4:c.88175A>C (TTN) NP_596869.4:p.His29392Pro
NM_133432.3:c.69059A>C (TTN) NP_597676.3:p.His23020Pro
NM_133437.4:c.69260A>C (TTN) NP_597681.4:p.His23087Pro
NR_038271.1:n.446+20714T>G (TTN-AS1)
NR_038272.1:n.2043+1989T>G (TTN-AS1)
XM_011511729.1:c.94976A>C (TTN) XP_011510031.1:p.His31659Pro
XM_011511730.1:c.68870A>C (TTN) XP_011510032.1:p.His22957Pro
XM_011511731.1:c.68729A>C (TTN) XP_011510033.1:p.His22910Pro
XM_017004819.1:c.94772A>C (TTN) XP_016860308.1:p.His31591Pro
XM_017004820.1:c.90170A>C (TTN) XP_016860309.1:p.His30057Pro
XM_017004821.1:c.90167A>C (TTN) XP_016860310.1:p.His30056Pro
XM_017004822.1:c.87209A>C (TTN) XP_016860311.1:p.His29070Pro
XM_017004823.1:c.68825A>C (TTN) XP_016860312.1:p.His22942Pro
XM_024453094.1:c.90320A>C (TTN) XP_024308862.1:p.His30107Pro
XM_024453095.1:c.90317A>C (TTN) XP_024308863.1:p.His30106Pro
XM_024453096.1:c.89750A>C (TTN) XP_024308864.1:p.His29917Pro
XM_024453097.1:c.87092A>C (TTN) XP_024308865.1:p.His29031Pro
XM_024453098.1:c.87011A>C (TTN) XP_024308866.1:p.His29004Pro
XM_024453099.1:c.68774A>C (TTN) XP_024308867.1:p.His22925Pro
XM_024453100.1:c.58628A>C (TTN) XP_024308868.1:p.His19543Pro