Canonical Allele Identifier: CA349410905

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531819A>T , CM000664.2:g.178531819A>T GRCh38
NC_000002.11:g.179396546A>T , CM000664.1:g.179396546A>T GRCh37
NC_000002.10:g.179104792A>T NCBI36
NG_011618.3:g.303984T>A , LRG_391:g.303984T>A
NG_051363.1:g.13993A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.97092T>A (TTN) ENSP00000343764.6:p.Ser32364Arg
ENST00000342175.11:c.78177T>A (TTN) ENSP00000340554.6:p.Ser26059Arg
ENST00000359218.10:c.77976T>A (TTN) ENSP00000352154.5:p.Ser25992Arg
ENST00000342175.10:c.78177T>A (TTN) ENSP00000340554.6:p.Ser26059Arg
ENST00000342992.10:c.97092T>A (TTN) ENSP00000343764.6:p.Ser32364Arg
ENST00000359218.9:c.77976T>A (TTN) ENSP00000352154.5:p.Ser25992Arg
ENST00000460472.6:c.77601T>A (TTN) ENSP00000434586.1:p.Ser25867Arg
ENST00000589042.5:c.104796T>A (TTN) MANE Select ENSP00000467141.1:p.Ser34932Arg
ENST00000591111.5:c.99873T>A (TTN) ENSP00000465570.1:p.Ser33291Arg
ENST00000615779.4:c.99873T>A (TTN) ENSP00000483597.1:p.Ser33291Arg
NM_001256850.1:c.99873T>A (TTN) NP_001243779.1:p.Ser33291Arg
NM_001267550.2:c.104796T>A (TTN) MANE Select NP_001254479.2:p.Ser34932Arg
NM_003319.4:c.77601T>A (TTN) NP_003310.4:p.Ser25867Arg
NM_133378.4:c.97092T>A (TTN) NP_596869.4:p.Ser32364Arg
NM_133432.3:c.77976T>A (TTN) NP_597676.3:p.Ser25992Arg
NM_133437.4:c.78177T>A (TTN) NP_597681.4:p.Ser26059Arg
NR_038271.1:n.446+8183A>T (TTN-AS1)
NR_038272.1:n.220-3913A>T (TTN-AS1)
XM_011511729.1:c.103893T>A (TTN) XP_011510031.1:p.Ser34631Arg
XM_011511730.1:c.77787T>A (TTN) XP_011510032.1:p.Ser25929Arg
XM_011511731.1:c.77646T>A (TTN) XP_011510033.1:p.Ser25882Arg
XM_017004819.1:c.103689T>A (TTN) XP_016860308.1:p.Ser34563Arg
XM_017004820.1:c.99087T>A (TTN) XP_016860309.1:p.Ser33029Arg
XM_017004821.1:c.99084T>A (TTN) XP_016860310.1:p.Ser33028Arg
XM_017004822.1:c.96126T>A (TTN) XP_016860311.1:p.Ser32042Arg
XM_017004823.1:c.77742T>A (TTN) XP_016860312.1:p.Ser25914Arg
XM_024453094.1:c.99237T>A (TTN) XP_024308862.1:p.Ser33079Arg
XM_024453095.1:c.99234T>A (TTN) XP_024308863.1:p.Ser33078Arg
XM_024453096.1:c.98667T>A (TTN) XP_024308864.1:p.Ser32889Arg
XM_024453097.1:c.96009T>A (TTN) XP_024308865.1:p.Ser32003Arg
XM_024453098.1:c.95928T>A (TTN) XP_024308866.1:p.Ser31976Arg
XM_024453099.1:c.77691T>A (TTN) XP_024308867.1:p.Ser25897Arg
XM_024453100.1:c.67545T>A (TTN) XP_024308868.1:p.Ser22515Arg