Canonical Allele Identifier: CA1310530333

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569318G= , CM000664.2:g.178569318G= GRCh38
NC_000002.11:g.179434045G= , CM000664.1:g.179434045G= GRCh37
NC_000002.10:g.179142291G= NCBI36
NG_011618.3:g.266485C= , LRG_391:g.266485C=
NG_051363.1:g.51492G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69110C= (TTN) ENSP00000343764.6:p.Pro23037=
ENST00000342175.11:c.50195C= (TTN) ENSP00000340554.6:p.Pro16732=
ENST00000359218.10:c.49994C= (TTN) ENSP00000352154.5:p.Pro16665=
ENST00000342175.10:c.50195C= (TTN) ENSP00000340554.6:p.Pro16732=
ENST00000342992.10:c.69110C= (TTN) ENSP00000343764.6:p.Pro23037=
ENST00000359218.9:c.49994C= (TTN) ENSP00000352154.5:p.Pro16665=
ENST00000460472.6:c.49619C= (TTN) ENSP00000434586.1:p.Pro16540=
ENST00000589042.5:c.76814C= (TTN) MANE Select ENSP00000467141.1:p.Pro25605=
ENST00000591111.5:c.71891C= (TTN) ENSP00000465570.1:p.Pro23964=
ENST00000615779.4:c.71891C= (TTN) ENSP00000483597.1:p.Pro23964=
NM_001256850.1:c.71891C= (TTN) NP_001243779.1:p.Pro23964=
NM_001267550.2:c.76814C= (TTN) MANE Select NP_001254479.2:p.Pro25605=
NM_003319.4:c.49619C= (TTN) NP_003310.4:p.Pro16540=
NM_133378.4:c.69110C= (TTN) NP_596869.4:p.Pro23037=
NM_133432.3:c.49994C= (TTN) NP_597676.3:p.Pro16665=
NM_133437.4:c.50195C= (TTN) NP_597681.4:p.Pro16732=
NR_038271.1:n.447-1982G= (TTN-AS1)
NR_038272.1:n.2044-13254G= (TTN-AS1)
XM_011511729.1:c.75911C= (TTN) XP_011510031.1:p.Pro25304=
XM_011511730.1:c.49805C= (TTN) XP_011510032.1:p.Pro16602=
XM_011511731.1:c.49664C= (TTN) XP_011510033.1:p.Pro16555=
XM_017004819.1:c.75707C= (TTN) XP_016860308.1:p.Pro25236=
XM_017004820.1:c.71105C= (TTN) XP_016860309.1:p.Pro23702=
XM_017004821.1:c.71102C= (TTN) XP_016860310.1:p.Pro23701=
XM_017004822.1:c.68144C= (TTN) XP_016860311.1:p.Pro22715=
XM_017004823.1:c.49760C= (TTN) XP_016860312.1:p.Pro16587=
XM_024453094.1:c.71255C= (TTN) XP_024308862.1:p.Pro23752=
XM_024453095.1:c.71252C= (TTN) XP_024308863.1:p.Pro23751=
XM_024453096.1:c.70685C= (TTN) XP_024308864.1:p.Pro23562=
XM_024453097.1:c.68027C= (TTN) XP_024308865.1:p.Pro22676=
XM_024453098.1:c.67946C= (TTN) XP_024308866.1:p.Pro22649=
XM_024453099.1:c.49709C= (TTN) XP_024308867.1:p.Pro16570=
XM_024453100.1:c.39563C= (TTN) XP_024308868.1:p.Pro13188=