Canonical Allele Identifier: CA349510935

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552478A>T , CM000664.2:g.178552478A>T GRCh38
NC_000002.11:g.179417205A>T , CM000664.1:g.179417205A>T GRCh37
NC_000002.10:g.179125451A>T NCBI36
NG_011618.3:g.283325T>A , LRG_391:g.283325T>A
NG_051363.1:g.34652A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82718T>A (TTN) ENSP00000343764.6:p.Val27573Asp
ENST00000342175.11:c.63803T>A (TTN) ENSP00000340554.6:p.Val21268Asp
ENST00000359218.10:c.63602T>A (TTN) ENSP00000352154.5:p.Val21201Asp
ENST00000342175.10:c.63803T>A (TTN) ENSP00000340554.6:p.Val21268Asp
ENST00000342992.10:c.82718T>A (TTN) ENSP00000343764.6:p.Val27573Asp
ENST00000359218.9:c.63602T>A (TTN) ENSP00000352154.5:p.Val21201Asp
ENST00000460472.6:c.63227T>A (TTN) ENSP00000434586.1:p.Val21076Asp
ENST00000589042.5:c.90422T>A (TTN) MANE Select ENSP00000467141.1:p.Val30141Asp
ENST00000591111.5:c.85499T>A (TTN) ENSP00000465570.1:p.Val28500Asp
ENST00000615779.4:c.85499T>A (TTN) ENSP00000483597.1:p.Val28500Asp
NM_001256850.1:c.85499T>A (TTN) NP_001243779.1:p.Val28500Asp
NM_001267550.2:c.90422T>A (TTN) MANE Select NP_001254479.2:p.Val30141Asp
NM_003319.4:c.63227T>A (TTN) NP_003310.4:p.Val21076Asp
NM_133378.4:c.82718T>A (TTN) NP_596869.4:p.Val27573Asp
NM_133432.3:c.63602T>A (TTN) NP_597676.3:p.Val21201Asp
NM_133437.4:c.63803T>A (TTN) NP_597681.4:p.Val21268Asp
NR_038271.1:n.447-18822A>T (TTN-AS1)
NR_038272.1:n.2043+10117A>T (TTN-AS1)
XM_011511729.1:c.89519T>A (TTN) XP_011510031.1:p.Val29840Asp
XM_011511730.1:c.63413T>A (TTN) XP_011510032.1:p.Val21138Asp
XM_011511731.1:c.63272T>A (TTN) XP_011510033.1:p.Val21091Asp
XM_017004819.1:c.89315T>A (TTN) XP_016860308.1:p.Val29772Asp
XM_017004820.1:c.84713T>A (TTN) XP_016860309.1:p.Val28238Asp
XM_017004821.1:c.84710T>A (TTN) XP_016860310.1:p.Val28237Asp
XM_017004822.1:c.81752T>A (TTN) XP_016860311.1:p.Val27251Asp
XM_017004823.1:c.63368T>A (TTN) XP_016860312.1:p.Val21123Asp
XM_024453094.1:c.84863T>A (TTN) XP_024308862.1:p.Val28288Asp
XM_024453095.1:c.84860T>A (TTN) XP_024308863.1:p.Val28287Asp
XM_024453096.1:c.84293T>A (TTN) XP_024308864.1:p.Val28098Asp
XM_024453097.1:c.81635T>A (TTN) XP_024308865.1:p.Val27212Asp
XM_024453098.1:c.81554T>A (TTN) XP_024308866.1:p.Val27185Asp
XM_024453099.1:c.63317T>A (TTN) XP_024308867.1:p.Val21106Asp
XM_024453100.1:c.53171T>A (TTN) XP_024308868.1:p.Val17724Asp