Canonical Allele Identifier: CA349426907

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537076C>T , CM000664.2:g.178537076C>T GRCh38
NC_000002.11:g.179401803C>T , CM000664.1:g.179401803C>T GRCh37
NC_000002.10:g.179110049C>T NCBI36
NG_011618.3:g.298727G>A , LRG_391:g.298727G>A
NG_051363.1:g.19250C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92329G>A (TTN) ENSP00000343764.6:p.Ala30777Thr
ENST00000342175.11:c.73414G>A (TTN) ENSP00000340554.6:p.Ala24472Thr
ENST00000359218.10:c.73213G>A (TTN) ENSP00000352154.5:p.Ala24405Thr
ENST00000342175.10:c.73414G>A (TTN) ENSP00000340554.6:p.Ala24472Thr
ENST00000342992.10:c.92329G>A (TTN) ENSP00000343764.6:p.Ala30777Thr
ENST00000359218.9:c.73213G>A (TTN) ENSP00000352154.5:p.Ala24405Thr
ENST00000460472.6:c.72838G>A (TTN) ENSP00000434586.1:p.Ala24280Thr
ENST00000589042.5:c.100033G>A (TTN) MANE Select ENSP00000467141.1:p.Ala33345Thr
ENST00000591111.5:c.95110G>A (TTN) ENSP00000465570.1:p.Ala31704Thr
ENST00000615779.4:c.95110G>A (TTN) ENSP00000483597.1:p.Ala31704Thr
NM_001256850.1:c.95110G>A (TTN) NP_001243779.1:p.Ala31704Thr
NM_001267550.2:c.100033G>A (TTN) MANE Select NP_001254479.2:p.Ala33345Thr
NM_003319.4:c.72838G>A (TTN) NP_003310.4:p.Ala24280Thr
NM_133378.4:c.92329G>A (TTN) NP_596869.4:p.Ala30777Thr
NM_133432.3:c.73213G>A (TTN) NP_597676.3:p.Ala24405Thr
NM_133437.4:c.73414G>A (TTN) NP_597681.4:p.Ala24472Thr
NR_038271.1:n.446+13440C>T (TTN-AS1)
NR_038272.1:n.317-285C>T (TTN-AS1)
XM_011511729.1:c.99130G>A (TTN) XP_011510031.1:p.Ala33044Thr
XM_011511730.1:c.73024G>A (TTN) XP_011510032.1:p.Ala24342Thr
XM_011511731.1:c.72883G>A (TTN) XP_011510033.1:p.Ala24295Thr
XM_017004819.1:c.98926G>A (TTN) XP_016860308.1:p.Ala32976Thr
XM_017004820.1:c.94324G>A (TTN) XP_016860309.1:p.Ala31442Thr
XM_017004821.1:c.94321G>A (TTN) XP_016860310.1:p.Ala31441Thr
XM_017004822.1:c.91363G>A (TTN) XP_016860311.1:p.Ala30455Thr
XM_017004823.1:c.72979G>A (TTN) XP_016860312.1:p.Ala24327Thr
XM_024453094.1:c.94474G>A (TTN) XP_024308862.1:p.Ala31492Thr
XM_024453095.1:c.94471G>A (TTN) XP_024308863.1:p.Ala31491Thr
XM_024453096.1:c.93904G>A (TTN) XP_024308864.1:p.Ala31302Thr
XM_024453097.1:c.91246G>A (TTN) XP_024308865.1:p.Ala30416Thr
XM_024453098.1:c.91165G>A (TTN) XP_024308866.1:p.Ala30389Thr
XM_024453099.1:c.72928G>A (TTN) XP_024308867.1:p.Ala24310Thr
XM_024453100.1:c.62782G>A (TTN) XP_024308868.1:p.Ala20928Thr