Canonical Allele Identifier: CA349495524

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549765T>G , CM000664.2:g.178549765T>G GRCh38
NC_000002.11:g.179414492T>G , CM000664.1:g.179414492T>G GRCh37
NC_000002.10:g.179122738T>G NCBI36
NG_011618.3:g.286038A>C , LRG_391:g.286038A>C
NG_051363.1:g.31939T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84253A>C (TTN) ENSP00000343764.6:p.Thr28085Pro
ENST00000342175.11:c.65338A>C (TTN) ENSP00000340554.6:p.Thr21780Pro
ENST00000359218.10:c.65137A>C (TTN) ENSP00000352154.5:p.Thr21713Pro
ENST00000342175.10:c.65338A>C (TTN) ENSP00000340554.6:p.Thr21780Pro
ENST00000342992.10:c.84253A>C (TTN) ENSP00000343764.6:p.Thr28085Pro
ENST00000359218.9:c.65137A>C (TTN) ENSP00000352154.5:p.Thr21713Pro
ENST00000460472.6:c.64762A>C (TTN) ENSP00000434586.1:p.Thr21588Pro
ENST00000589042.5:c.91957A>C (TTN) MANE Select ENSP00000467141.1:p.Thr30653Pro
ENST00000591111.5:c.87034A>C (TTN) ENSP00000465570.1:p.Thr29012Pro
ENST00000615779.4:c.87034A>C (TTN) ENSP00000483597.1:p.Thr29012Pro
NM_001256850.1:c.87034A>C (TTN) NP_001243779.1:p.Thr29012Pro
NM_001267550.2:c.91957A>C (TTN) MANE Select NP_001254479.2:p.Thr30653Pro
NM_003319.4:c.64762A>C (TTN) NP_003310.4:p.Thr21588Pro
NM_133378.4:c.84253A>C (TTN) NP_596869.4:p.Thr28085Pro
NM_133432.3:c.65137A>C (TTN) NP_597676.3:p.Thr21713Pro
NM_133437.4:c.65338A>C (TTN) NP_597681.4:p.Thr21780Pro
NR_038271.1:n.447-21535T>G (TTN-AS1)
NR_038272.1:n.2043+7404T>G (TTN-AS1)
XM_011511729.1:c.91054A>C (TTN) XP_011510031.1:p.Thr30352Pro
XM_011511730.1:c.64948A>C (TTN) XP_011510032.1:p.Thr21650Pro
XM_011511731.1:c.64807A>C (TTN) XP_011510033.1:p.Thr21603Pro
XM_017004819.1:c.90850A>C (TTN) XP_016860308.1:p.Thr30284Pro
XM_017004820.1:c.86248A>C (TTN) XP_016860309.1:p.Thr28750Pro
XM_017004821.1:c.86245A>C (TTN) XP_016860310.1:p.Thr28749Pro
XM_017004822.1:c.83287A>C (TTN) XP_016860311.1:p.Thr27763Pro
XM_017004823.1:c.64903A>C (TTN) XP_016860312.1:p.Thr21635Pro
XM_024453094.1:c.86398A>C (TTN) XP_024308862.1:p.Thr28800Pro
XM_024453095.1:c.86395A>C (TTN) XP_024308863.1:p.Thr28799Pro
XM_024453096.1:c.85828A>C (TTN) XP_024308864.1:p.Thr28610Pro
XM_024453097.1:c.83170A>C (TTN) XP_024308865.1:p.Thr27724Pro
XM_024453098.1:c.83089A>C (TTN) XP_024308866.1:p.Thr27697Pro
XM_024453099.1:c.64852A>C (TTN) XP_024308867.1:p.Thr21618Pro
XM_024453100.1:c.54706A>C (TTN) XP_024308868.1:p.Thr18236Pro