Canonical Allele Identifier: CA349618420

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618081T>A , CM000664.2:g.178618081T>A GRCh38
NC_000002.11:g.179482808T>A , CM000664.1:g.179482808T>A GRCh37
NC_000002.10:g.179191053T>A NCBI36
NG_011618.3:g.217722A>T , LRG_391:g.217722A>T
NG_051363.1:g.100255T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39566A>T (TTN) ENSP00000343764.6:p.Asp13189Val
ENST00000342175.11:c.20651A>T (TTN) ENSP00000340554.6:p.Asp6884Val
ENST00000359218.10:c.20450A>T (TTN) ENSP00000352154.5:p.Asp6817Val
ENST00000342175.10:c.20651A>T (TTN) ENSP00000340554.6:p.Asp6884Val
ENST00000342992.10:c.39566A>T (TTN) ENSP00000343764.6:p.Asp13189Val
ENST00000359218.9:c.20450A>T (TTN) ENSP00000352154.5:p.Asp6817Val
ENST00000460472.6:c.20075A>T (TTN) ENSP00000434586.1:p.Asp6692Val
ENST00000589042.5:c.47270A>T (TTN) MANE Select ENSP00000467141.1:p.Asp15757Val
ENST00000591111.5:c.42347A>T (TTN) ENSP00000465570.1:p.Asp14116Val
ENST00000615779.4:c.42347A>T (TTN) ENSP00000483597.1:p.Asp14116Val
NM_001256850.1:c.42347A>T (TTN) NP_001243779.1:p.Asp14116Val
NM_001267550.2:c.47270A>T (TTN) MANE Select NP_001254479.2:p.Asp15757Val
NM_003319.4:c.20075A>T (TTN) NP_003310.4:p.Asp6692Val
NM_133378.4:c.39566A>T (TTN) NP_596869.4:p.Asp13189Val
NM_133432.3:c.20450A>T (TTN) NP_597676.3:p.Asp6817Val
NM_133437.4:c.20651A>T (TTN) NP_597681.4:p.Asp6884Val
NR_038271.1:n.1605-1672T>A (TTN-AS1)
XM_011511729.1:c.46367A>T (TTN) XP_011510031.1:p.Asp15456Val
XM_011511730.1:c.20261A>T (TTN) XP_011510032.1:p.Asp6754Val
XM_011511731.1:c.20120A>T (TTN) XP_011510033.1:p.Asp6707Val
XM_017004819.1:c.46163A>T (TTN) XP_016860308.1:p.Asp15388Val
XM_017004820.1:c.41561A>T (TTN) XP_016860309.1:p.Asp13854Val
XM_017004821.1:c.41558A>T (TTN) XP_016860310.1:p.Asp13853Val
XM_017004822.1:c.38600A>T (TTN) XP_016860311.1:p.Asp12867Val
XM_017004823.1:c.20216A>T (TTN) XP_016860312.1:p.Asp6739Val
XM_024453094.1:c.41711A>T (TTN) XP_024308862.1:p.Asp13904Val
XM_024453095.1:c.41708A>T (TTN) XP_024308863.1:p.Asp13903Val
XM_024453096.1:c.41141A>T (TTN) XP_024308864.1:p.Asp13714Val
XM_024453097.1:c.38483A>T (TTN) XP_024308865.1:p.Asp12828Val
XM_024453098.1:c.38402A>T (TTN) XP_024308866.1:p.Asp12801Val
XM_024453099.1:c.20165A>T (TTN) XP_024308867.1:p.Asp6722Val
XM_024453100.1:c.10019A>T (TTN) XP_024308868.1:p.Asp3340Val