Canonical Allele Identifier: CA1310514752

Linked Data

dbSNP Id: rs1688662867

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530561dup , CM000664.2:g.178530561dup GRCh38
NC_000002.11:g.179395288dup , CM000664.1:g.179395288dup GRCh37
NC_000002.10:g.179103534dup NCBI36
NG_011618.3:g.305242dup , LRG_391:g.305242dup
NG_051363.1:g.12735dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98350dup (TTN) ENSP00000343764.6:p.Ser32784PhefsTer2
ENST00000342175.11:c.79435dup (TTN) ENSP00000340554.6:p.Ser26479PhefsTer2
ENST00000359218.10:c.79234dup (TTN) ENSP00000352154.5:p.Ser26412PhefsTer2
ENST00000342175.10:c.79435dup (TTN) ENSP00000340554.6:p.Ser26479PhefsTer2
ENST00000342992.10:c.98350dup (TTN) ENSP00000343764.6:p.Ser32784PhefsTer2
ENST00000359218.9:c.79234dup (TTN) ENSP00000352154.5:p.Ser26412PhefsTer2
ENST00000460472.6:c.78859dup (TTN) ENSP00000434586.1:p.Ser26287PhefsTer2
ENST00000589042.5:c.106054dup (TTN) MANE Select ENSP00000467141.1:p.Ser35352PhefsTer2
ENST00000591111.5:c.101131dup (TTN) ENSP00000465570.1:p.Ser33711PhefsTer2
ENST00000615779.4:c.101131dup (TTN) ENSP00000483597.1:p.Ser33711PhefsTer2
NM_001256850.1:c.101131dup (TTN) NP_001243779.1:p.Ser33711PhefsTer2
NM_001267550.2:c.106054dup (TTN) MANE Select NP_001254479.2:p.Ser35352PhefsTer2
NM_003319.4:c.78859dup (TTN) NP_003310.4:p.Ser26287PhefsTer2
NM_133378.4:c.98350dup (TTN) NP_596869.4:p.Ser32784PhefsTer2
NM_133432.3:c.79234dup (TTN) NP_597676.3:p.Ser26412PhefsTer2
NM_133437.4:c.79435dup (TTN) NP_597681.4:p.Ser26479PhefsTer2
NR_038271.1:n.446+6925dup (TTN-AS1)
NR_038272.1:n.220-5171dup (TTN-AS1)
XM_011511729.1:c.105151dup (TTN) XP_011510031.1:p.Ser35051PhefsTer2
XM_011511730.1:c.79045dup (TTN) XP_011510032.1:p.Ser26349PhefsTer2
XM_011511731.1:c.78904dup (TTN) XP_011510033.1:p.Ser26302PhefsTer2
XM_017004819.1:c.104947dup (TTN) XP_016860308.1:p.Ser34983PhefsTer2
XM_017004820.1:c.100345dup (TTN) XP_016860309.1:p.Ser33449PhefsTer2
XM_017004821.1:c.100342dup (TTN) XP_016860310.1:p.Ser33448PhefsTer2
XM_017004822.1:c.97384dup (TTN) XP_016860311.1:p.Ser32462PhefsTer2
XM_017004823.1:c.79000dup (TTN) XP_016860312.1:p.Ser26334PhefsTer2
XM_024453094.1:c.100495dup (TTN) XP_024308862.1:p.Ser33499PhefsTer2
XM_024453095.1:c.100492dup (TTN) XP_024308863.1:p.Ser33498PhefsTer2
XM_024453096.1:c.99925dup (TTN) XP_024308864.1:p.Ser33309PhefsTer2
XM_024453097.1:c.97267dup (TTN) XP_024308865.1:p.Ser32423PhefsTer2
XM_024453098.1:c.97186dup (TTN) XP_024308866.1:p.Ser32396PhefsTer2
XM_024453099.1:c.78949dup (TTN) XP_024308867.1:p.Ser26317PhefsTer2
XM_024453100.1:c.68803dup (TTN) XP_024308868.1:p.Ser22935PhefsTer2