Canonical Allele Identifier: CA349405455

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530081T>A , CM000664.2:g.178530081T>A GRCh38
NC_000002.11:g.179394808T>A , CM000664.1:g.179394808T>A GRCh37
NC_000002.10:g.179103054T>A NCBI36
NG_011618.3:g.305722A>T , LRG_391:g.305722A>T
NG_051363.1:g.12255T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98706A>T (TTN) ENSP00000343764.6:p.Glu32902Asp
ENST00000342175.11:c.79791A>T (TTN) ENSP00000340554.6:p.Glu26597Asp
ENST00000359218.10:c.79590A>T (TTN) ENSP00000352154.5:p.Glu26530Asp
ENST00000342175.10:c.79791A>T (TTN) ENSP00000340554.6:p.Glu26597Asp
ENST00000342992.10:c.98706A>T (TTN) ENSP00000343764.6:p.Glu32902Asp
ENST00000359218.9:c.79590A>T (TTN) ENSP00000352154.5:p.Glu26530Asp
ENST00000460472.6:c.79215A>T (TTN) ENSP00000434586.1:p.Glu26405Asp
ENST00000589042.5:c.106410A>T (TTN) MANE Select ENSP00000467141.1:p.Glu35470Asp
ENST00000591111.5:c.101487A>T (TTN) ENSP00000465570.1:p.Glu33829Asp
ENST00000615779.4:c.101487A>T (TTN) ENSP00000483597.1:p.Glu33829Asp
NM_001256850.1:c.101487A>T (TTN) NP_001243779.1:p.Glu33829Asp
NM_001267550.2:c.106410A>T (TTN) MANE Select NP_001254479.2:p.Glu35470Asp
NM_003319.4:c.79215A>T (TTN) NP_003310.4:p.Glu26405Asp
NM_133378.4:c.98706A>T (TTN) NP_596869.4:p.Glu32902Asp
NM_133432.3:c.79590A>T (TTN) NP_597676.3:p.Glu26530Asp
NM_133437.4:c.79791A>T (TTN) NP_597681.4:p.Glu26597Asp
NR_038271.1:n.446+6445T>A (TTN-AS1)
NR_038272.1:n.220-5651T>A (TTN-AS1)
XM_011511729.1:c.105507A>T (TTN) XP_011510031.1:p.Glu35169Asp
XM_011511730.1:c.79401A>T (TTN) XP_011510032.1:p.Glu26467Asp
XM_011511731.1:c.79260A>T (TTN) XP_011510033.1:p.Glu26420Asp
XM_017004819.1:c.105303A>T (TTN) XP_016860308.1:p.Glu35101Asp
XM_017004820.1:c.100701A>T (TTN) XP_016860309.1:p.Glu33567Asp
XM_017004821.1:c.100698A>T (TTN) XP_016860310.1:p.Glu33566Asp
XM_017004822.1:c.97740A>T (TTN) XP_016860311.1:p.Glu32580Asp
XM_017004823.1:c.79356A>T (TTN) XP_016860312.1:p.Glu26452Asp
XM_024453094.1:c.100851A>T (TTN) XP_024308862.1:p.Glu33617Asp
XM_024453095.1:c.100848A>T (TTN) XP_024308863.1:p.Glu33616Asp
XM_024453096.1:c.100281A>T (TTN) XP_024308864.1:p.Glu33427Asp
XM_024453097.1:c.97623A>T (TTN) XP_024308865.1:p.Glu32541Asp
XM_024453098.1:c.97542A>T (TTN) XP_024308866.1:p.Glu32514Asp
XM_024453099.1:c.79305A>T (TTN) XP_024308867.1:p.Glu26435Asp
XM_024453100.1:c.69159A>T (TTN) XP_024308868.1:p.Glu23053Asp