Canonical Allele Identifier: CA349411774

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532196T>A , CM000664.2:g.178532196T>A GRCh38
NC_000002.11:g.179396923T>A , CM000664.1:g.179396923T>A GRCh37
NC_000002.10:g.179105169T>A NCBI36
NG_011618.3:g.303607A>T , LRG_391:g.303607A>T
NG_051363.1:g.14370T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96715A>T (TTN) ENSP00000343764.6:p.Arg32239Ter
ENST00000342175.11:c.77800A>T (TTN) ENSP00000340554.6:p.Arg25934Ter
ENST00000359218.10:c.77599A>T (TTN) ENSP00000352154.5:p.Arg25867Ter
ENST00000342175.10:c.77800A>T (TTN) ENSP00000340554.6:p.Arg25934Ter
ENST00000342992.10:c.96715A>T (TTN) ENSP00000343764.6:p.Arg32239Ter
ENST00000359218.9:c.77599A>T (TTN) ENSP00000352154.5:p.Arg25867Ter
ENST00000460472.6:c.77224A>T (TTN) ENSP00000434586.1:p.Arg25742Ter
ENST00000589042.5:c.104419A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34807Ter
ENST00000591111.5:c.99496A>T (TTN) ENSP00000465570.1:p.Arg33166Ter
ENST00000615779.4:c.99496A>T (TTN) ENSP00000483597.1:p.Arg33166Ter
NM_001256850.1:c.99496A>T (TTN) NP_001243779.1:p.Arg33166Ter
NM_001267550.2:c.104419A>T (TTN) MANE Select NP_001254479.2:p.Arg34807Ter
NM_003319.4:c.77224A>T (TTN) NP_003310.4:p.Arg25742Ter
NM_133378.4:c.96715A>T (TTN) NP_596869.4:p.Arg32239Ter
NM_133432.3:c.77599A>T (TTN) NP_597676.3:p.Arg25867Ter
NM_133437.4:c.77800A>T (TTN) NP_597681.4:p.Arg25934Ter
NR_038271.1:n.446+8560T>A (TTN-AS1)
NR_038272.1:n.220-3536T>A (TTN-AS1)
XM_011511729.1:c.103516A>T (TTN) XP_011510031.1:p.Arg34506Ter
XM_011511730.1:c.77410A>T (TTN) XP_011510032.1:p.Arg25804Ter
XM_011511731.1:c.77269A>T (TTN) XP_011510033.1:p.Arg25757Ter
XM_017004819.1:c.103312A>T (TTN) XP_016860308.1:p.Arg34438Ter
XM_017004820.1:c.98710A>T (TTN) XP_016860309.1:p.Arg32904Ter
XM_017004821.1:c.98707A>T (TTN) XP_016860310.1:p.Arg32903Ter
XM_017004822.1:c.95749A>T (TTN) XP_016860311.1:p.Arg31917Ter
XM_017004823.1:c.77365A>T (TTN) XP_016860312.1:p.Arg25789Ter
XM_024453094.1:c.98860A>T (TTN) XP_024308862.1:p.Arg32954Ter
XM_024453095.1:c.98857A>T (TTN) XP_024308863.1:p.Arg32953Ter
XM_024453096.1:c.98290A>T (TTN) XP_024308864.1:p.Arg32764Ter
XM_024453097.1:c.95632A>T (TTN) XP_024308865.1:p.Arg31878Ter
XM_024453098.1:c.95551A>T (TTN) XP_024308866.1:p.Arg31851Ter
XM_024453099.1:c.77314A>T (TTN) XP_024308867.1:p.Arg25772Ter
XM_024453100.1:c.67168A>T (TTN) XP_024308868.1:p.Arg22390Ter