Canonical Allele Identifier: CA349411772

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532195C>A , CM000664.2:g.178532195C>A GRCh38
NC_000002.11:g.179396922C>A , CM000664.1:g.179396922C>A GRCh37
NC_000002.10:g.179105168C>A NCBI36
NG_011618.3:g.303608G>T , LRG_391:g.303608G>T
NG_051363.1:g.14369C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96716G>T (TTN) ENSP00000343764.6:p.Arg32239Ile
ENST00000342175.11:c.77801G>T (TTN) ENSP00000340554.6:p.Arg25934Ile
ENST00000359218.10:c.77600G>T (TTN) ENSP00000352154.5:p.Arg25867Ile
ENST00000342175.10:c.77801G>T (TTN) ENSP00000340554.6:p.Arg25934Ile
ENST00000342992.10:c.96716G>T (TTN) ENSP00000343764.6:p.Arg32239Ile
ENST00000359218.9:c.77600G>T (TTN) ENSP00000352154.5:p.Arg25867Ile
ENST00000460472.6:c.77225G>T (TTN) ENSP00000434586.1:p.Arg25742Ile
ENST00000589042.5:c.104420G>T (TTN) MANE Select ENSP00000467141.1:p.Arg34807Ile
ENST00000591111.5:c.99497G>T (TTN) ENSP00000465570.1:p.Arg33166Ile
ENST00000615779.4:c.99497G>T (TTN) ENSP00000483597.1:p.Arg33166Ile
NM_001256850.1:c.99497G>T (TTN) NP_001243779.1:p.Arg33166Ile
NM_001267550.2:c.104420G>T (TTN) MANE Select NP_001254479.2:p.Arg34807Ile
NM_003319.4:c.77225G>T (TTN) NP_003310.4:p.Arg25742Ile
NM_133378.4:c.96716G>T (TTN) NP_596869.4:p.Arg32239Ile
NM_133432.3:c.77600G>T (TTN) NP_597676.3:p.Arg25867Ile
NM_133437.4:c.77801G>T (TTN) NP_597681.4:p.Arg25934Ile
NR_038271.1:n.446+8559C>A (TTN-AS1)
NR_038272.1:n.220-3537C>A (TTN-AS1)
XM_011511729.1:c.103517G>T (TTN) XP_011510031.1:p.Arg34506Ile
XM_011511730.1:c.77411G>T (TTN) XP_011510032.1:p.Arg25804Ile
XM_011511731.1:c.77270G>T (TTN) XP_011510033.1:p.Arg25757Ile
XM_017004819.1:c.103313G>T (TTN) XP_016860308.1:p.Arg34438Ile
XM_017004820.1:c.98711G>T (TTN) XP_016860309.1:p.Arg32904Ile
XM_017004821.1:c.98708G>T (TTN) XP_016860310.1:p.Arg32903Ile
XM_017004822.1:c.95750G>T (TTN) XP_016860311.1:p.Arg31917Ile
XM_017004823.1:c.77366G>T (TTN) XP_016860312.1:p.Arg25789Ile
XM_024453094.1:c.98861G>T (TTN) XP_024308862.1:p.Arg32954Ile
XM_024453095.1:c.98858G>T (TTN) XP_024308863.1:p.Arg32953Ile
XM_024453096.1:c.98291G>T (TTN) XP_024308864.1:p.Arg32764Ile
XM_024453097.1:c.95633G>T (TTN) XP_024308865.1:p.Arg31878Ile
XM_024453098.1:c.95552G>T (TTN) XP_024308866.1:p.Arg31851Ile
XM_024453099.1:c.77315G>T (TTN) XP_024308867.1:p.Arg25772Ile
XM_024453100.1:c.67169G>T (TTN) XP_024308868.1:p.Arg22390Ile