Canonical Allele Identifier: CA430248186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559797G>T , CM000664.2:g.178559797G>T GRCh38
NC_000002.11:g.179424524G>T , CM000664.1:g.179424524G>T GRCh37
NC_000002.10:g.179132770G>T NCBI36
NG_011618.3:g.276006C>A , LRG_391:g.276006C>A
NG_051363.1:g.41971G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.78631C>A (TTN) ENSP00000343764.6:p.Arg26211=
ENST00000342175.11:c.59716C>A (TTN) ENSP00000340554.6:p.Arg19906=
ENST00000359218.10:c.59515C>A (TTN) ENSP00000352154.5:p.Arg19839=
ENST00000342175.10:c.59716C>A (TTN) ENSP00000340554.6:p.Arg19906=
ENST00000342992.10:c.78631C>A (TTN) ENSP00000343764.6:p.Arg26211=
ENST00000359218.9:c.59515C>A (TTN) ENSP00000352154.5:p.Arg19839=
ENST00000460472.6:c.59140C>A (TTN) ENSP00000434586.1:p.Arg19714=
ENST00000589042.5:c.86335C>A (TTN) MANE Select ENSP00000467141.1:p.Arg28779=
ENST00000591111.5:c.81412C>A (TTN) ENSP00000465570.1:p.Arg27138=
ENST00000615779.4:c.81412C>A (TTN) ENSP00000483597.1:p.Arg27138=
NM_001256850.1:c.81412C>A (TTN) NP_001243779.1:p.Arg27138=
NM_001267550.2:c.86335C>A (TTN) MANE Select NP_001254479.2:p.Arg28779=
NM_003319.4:c.59140C>A (TTN) NP_003310.4:p.Arg19714=
NM_133378.4:c.78631C>A (TTN) NP_596869.4:p.Arg26211=
NM_133432.3:c.59515C>A (TTN) NP_597676.3:p.Arg19839=
NM_133437.4:c.59716C>A (TTN) NP_597681.4:p.Arg19906=
NR_038271.1:n.447-11503G>T (TTN-AS1)
NR_038272.1:n.2043+17436G>T (TTN-AS1)
XM_011511729.1:c.85432C>A (TTN) XP_011510031.1:p.Arg28478=
XM_011511730.1:c.59326C>A (TTN) XP_011510032.1:p.Arg19776=
XM_011511731.1:c.59185C>A (TTN) XP_011510033.1:p.Arg19729=
XM_017004819.1:c.85228C>A (TTN) XP_016860308.1:p.Arg28410=
XM_017004820.1:c.80626C>A (TTN) XP_016860309.1:p.Arg26876=
XM_017004821.1:c.80623C>A (TTN) XP_016860310.1:p.Arg26875=
XM_017004822.1:c.77665C>A (TTN) XP_016860311.1:p.Arg25889=
XM_017004823.1:c.59281C>A (TTN) XP_016860312.1:p.Arg19761=
XM_024453094.1:c.80776C>A (TTN) XP_024308862.1:p.Arg26926=
XM_024453095.1:c.80773C>A (TTN) XP_024308863.1:p.Arg26925=
XM_024453096.1:c.80206C>A (TTN) XP_024308864.1:p.Arg26736=
XM_024453097.1:c.77548C>A (TTN) XP_024308865.1:p.Arg25850=
XM_024453098.1:c.77467C>A (TTN) XP_024308866.1:p.Arg25823=
XM_024453099.1:c.59230C>A (TTN) XP_024308867.1:p.Arg19744=
XM_024453100.1:c.49084C>A (TTN) XP_024308868.1:p.Arg16362=