Canonical Allele Identifier: CA349495523

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84253A>G (TTN) ENSP00000343764.6:p.Thr28085Ala
ENST00000342175.11:c.65338A>G (TTN) ENSP00000340554.6:p.Thr21780Ala
ENST00000359218.10:c.65137A>G (TTN) ENSP00000352154.5:p.Thr21713Ala
ENST00000342175.10:c.65338A>G (TTN) ENSP00000340554.6:p.Thr21780Ala
ENST00000342992.10:c.84253A>G (TTN) ENSP00000343764.6:p.Thr28085Ala
ENST00000359218.9:c.65137A>G (TTN) ENSP00000352154.5:p.Thr21713Ala
ENST00000460472.6:c.64762A>G (TTN) ENSP00000434586.1:p.Thr21588Ala
ENST00000589042.5:c.91957A>G (TTN) MANE Select ENSP00000467141.1:p.Thr30653Ala
ENST00000591111.5:c.87034A>G (TTN) ENSP00000465570.1:p.Thr29012Ala
ENST00000615779.4:c.87034A>G (TTN) ENSP00000483597.1:p.Thr29012Ala
NM_001256850.1:c.87034A>G (TTN) NP_001243779.1:p.Thr29012Ala
NM_001267550.2:c.91957A>G (TTN) MANE Select NP_001254479.2:p.Thr30653Ala
NM_003319.4:c.64762A>G (TTN) NP_003310.4:p.Thr21588Ala
NM_133378.4:c.84253A>G (TTN) NP_596869.4:p.Thr28085Ala
NM_133432.3:c.65137A>G (TTN) NP_597676.3:p.Thr21713Ala
NM_133437.4:c.65338A>G (TTN) NP_597681.4:p.Thr21780Ala
NR_038271.1:n.447-21535T>C (TTN-AS1)
NR_038272.1:n.2043+7404T>C (TTN-AS1)
XM_011511729.1:c.91054A>G (TTN) XP_011510031.1:p.Thr30352Ala
XM_011511730.1:c.64948A>G (TTN) XP_011510032.1:p.Thr21650Ala
XM_011511731.1:c.64807A>G (TTN) XP_011510033.1:p.Thr21603Ala
XM_017004819.1:c.90850A>G (TTN) XP_016860308.1:p.Thr30284Ala
XM_017004820.1:c.86248A>G (TTN) XP_016860309.1:p.Thr28750Ala
XM_017004821.1:c.86245A>G (TTN) XP_016860310.1:p.Thr28749Ala
XM_017004822.1:c.83287A>G (TTN) XP_016860311.1:p.Thr27763Ala
XM_017004823.1:c.64903A>G (TTN) XP_016860312.1:p.Thr21635Ala
XM_024453094.1:c.86398A>G (TTN) XP_024308862.1:p.Thr28800Ala
XM_024453095.1:c.86395A>G (TTN) XP_024308863.1:p.Thr28799Ala
XM_024453096.1:c.85828A>G (TTN) XP_024308864.1:p.Thr28610Ala
XM_024453097.1:c.83170A>G (TTN) XP_024308865.1:p.Thr27724Ala
XM_024453098.1:c.83089A>G (TTN) XP_024308866.1:p.Thr27697Ala
XM_024453099.1:c.64852A>G (TTN) XP_024308867.1:p.Thr21618Ala
XM_024453100.1:c.54706A>G (TTN) XP_024308868.1:p.Thr18236Ala