Canonical Allele Identifier: CA349601352

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567395T>G , CM000664.2:g.178567395T>G GRCh38
NC_000002.11:g.179432122T>G , CM000664.1:g.179432122T>G GRCh37
NC_000002.10:g.179140368T>G NCBI36
NG_011618.3:g.268408A>C , LRG_391:g.268408A>C
NG_051363.1:g.49569T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71033A>C (TTN) ENSP00000343764.6:p.Asp23678Ala
ENST00000342175.11:c.52118A>C (TTN) ENSP00000340554.6:p.Asp17373Ala
ENST00000359218.10:c.51917A>C (TTN) ENSP00000352154.5:p.Asp17306Ala
ENST00000342175.10:c.52118A>C (TTN) ENSP00000340554.6:p.Asp17373Ala
ENST00000342992.10:c.71033A>C (TTN) ENSP00000343764.6:p.Asp23678Ala
ENST00000359218.9:c.51917A>C (TTN) ENSP00000352154.5:p.Asp17306Ala
ENST00000460472.6:c.51542A>C (TTN) ENSP00000434586.1:p.Asp17181Ala
ENST00000589042.5:c.78737A>C (TTN) MANE Select ENSP00000467141.1:p.Asp26246Ala
ENST00000591111.5:c.73814A>C (TTN) ENSP00000465570.1:p.Asp24605Ala
ENST00000615779.4:c.73814A>C (TTN) ENSP00000483597.1:p.Asp24605Ala
NM_001256850.1:c.73814A>C (TTN) NP_001243779.1:p.Asp24605Ala
NM_001267550.2:c.78737A>C (TTN) MANE Select NP_001254479.2:p.Asp26246Ala
NM_003319.4:c.51542A>C (TTN) NP_003310.4:p.Asp17181Ala
NM_133378.4:c.71033A>C (TTN) NP_596869.4:p.Asp23678Ala
NM_133432.3:c.51917A>C (TTN) NP_597676.3:p.Asp17306Ala
NM_133437.4:c.52118A>C (TTN) NP_597681.4:p.Asp17373Ala
NR_038271.1:n.447-3905T>G (TTN-AS1)
NR_038272.1:n.2044-15177T>G (TTN-AS1)
XM_011511729.1:c.77834A>C (TTN) XP_011510031.1:p.Asp25945Ala
XM_011511730.1:c.51728A>C (TTN) XP_011510032.1:p.Asp17243Ala
XM_011511731.1:c.51587A>C (TTN) XP_011510033.1:p.Asp17196Ala
XM_017004819.1:c.77630A>C (TTN) XP_016860308.1:p.Asp25877Ala
XM_017004820.1:c.73028A>C (TTN) XP_016860309.1:p.Asp24343Ala
XM_017004821.1:c.73025A>C (TTN) XP_016860310.1:p.Asp24342Ala
XM_017004822.1:c.70067A>C (TTN) XP_016860311.1:p.Asp23356Ala
XM_017004823.1:c.51683A>C (TTN) XP_016860312.1:p.Asp17228Ala
XM_024453094.1:c.73178A>C (TTN) XP_024308862.1:p.Asp24393Ala
XM_024453095.1:c.73175A>C (TTN) XP_024308863.1:p.Asp24392Ala
XM_024453096.1:c.72608A>C (TTN) XP_024308864.1:p.Asp24203Ala
XM_024453097.1:c.69950A>C (TTN) XP_024308865.1:p.Asp23317Ala
XM_024453098.1:c.69869A>C (TTN) XP_024308866.1:p.Asp23290Ala
XM_024453099.1:c.51632A>C (TTN) XP_024308867.1:p.Asp17211Ala
XM_024453100.1:c.41486A>C (TTN) XP_024308868.1:p.Asp13829Ala