Canonical Allele Identifier: CA349451279

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543933T>A , CM000664.2:g.178543933T>A GRCh38
NC_000002.11:g.179408660T>A , CM000664.1:g.179408660T>A GRCh37
NC_000002.10:g.179116906T>A NCBI36
NG_011618.3:g.291870A>T , LRG_391:g.291870A>T
NG_051363.1:g.26107T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88507A>T (TTN) ENSP00000343764.6:p.Ile29503Leu
ENST00000342175.11:c.69592A>T (TTN) ENSP00000340554.6:p.Ile23198Leu
ENST00000359218.10:c.69391A>T (TTN) ENSP00000352154.5:p.Ile23131Leu
ENST00000342175.10:c.69592A>T (TTN) ENSP00000340554.6:p.Ile23198Leu
ENST00000342992.10:c.88507A>T (TTN) ENSP00000343764.6:p.Ile29503Leu
ENST00000359218.9:c.69391A>T (TTN) ENSP00000352154.5:p.Ile23131Leu
ENST00000460472.6:c.69016A>T (TTN) ENSP00000434586.1:p.Ile23006Leu
ENST00000589042.5:c.96211A>T (TTN) MANE Select ENSP00000467141.1:p.Ile32071Leu
ENST00000591111.5:c.91288A>T (TTN) ENSP00000465570.1:p.Ile30430Leu
ENST00000615779.4:c.91288A>T (TTN) ENSP00000483597.1:p.Ile30430Leu
NM_001256850.1:c.91288A>T (TTN) NP_001243779.1:p.Ile30430Leu
NM_001267550.2:c.96211A>T (TTN) MANE Select NP_001254479.2:p.Ile32071Leu
NM_003319.4:c.69016A>T (TTN) NP_003310.4:p.Ile23006Leu
NM_133378.4:c.88507A>T (TTN) NP_596869.4:p.Ile29503Leu
NM_133432.3:c.69391A>T (TTN) NP_597676.3:p.Ile23131Leu
NM_133437.4:c.69592A>T (TTN) NP_597681.4:p.Ile23198Leu
NR_038271.1:n.446+20297T>A (TTN-AS1)
NR_038272.1:n.2043+1572T>A (TTN-AS1)
XM_011511729.1:c.95308A>T (TTN) XP_011510031.1:p.Ile31770Leu
XM_011511730.1:c.69202A>T (TTN) XP_011510032.1:p.Ile23068Leu
XM_011511731.1:c.69061A>T (TTN) XP_011510033.1:p.Ile23021Leu
XM_017004819.1:c.95104A>T (TTN) XP_016860308.1:p.Ile31702Leu
XM_017004820.1:c.90502A>T (TTN) XP_016860309.1:p.Ile30168Leu
XM_017004821.1:c.90499A>T (TTN) XP_016860310.1:p.Ile30167Leu
XM_017004822.1:c.87541A>T (TTN) XP_016860311.1:p.Ile29181Leu
XM_017004823.1:c.69157A>T (TTN) XP_016860312.1:p.Ile23053Leu
XM_024453094.1:c.90652A>T (TTN) XP_024308862.1:p.Ile30218Leu
XM_024453095.1:c.90649A>T (TTN) XP_024308863.1:p.Ile30217Leu
XM_024453096.1:c.90082A>T (TTN) XP_024308864.1:p.Ile30028Leu
XM_024453097.1:c.87424A>T (TTN) XP_024308865.1:p.Ile29142Leu
XM_024453098.1:c.87343A>T (TTN) XP_024308866.1:p.Ile29115Leu
XM_024453099.1:c.69106A>T (TTN) XP_024308867.1:p.Ile23036Leu
XM_024453100.1:c.58960A>T (TTN) XP_024308868.1:p.Ile19654Leu