Canonical Allele Identifier: CA349467457

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546305T>A , CM000664.2:g.178546305T>A GRCh38
NC_000002.11:g.179411032T>A , CM000664.1:g.179411032T>A GRCh37
NC_000002.10:g.179119278T>A NCBI36
NG_011618.3:g.289498A>T , LRG_391:g.289498A>T
NG_051363.1:g.28479T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87322A>T (TTN) ENSP00000343764.6:p.Lys29108Ter
ENST00000342175.11:c.68407A>T (TTN) ENSP00000340554.6:p.Lys22803Ter
ENST00000359218.10:c.68206A>T (TTN) ENSP00000352154.5:p.Lys22736Ter
ENST00000342175.10:c.68407A>T (TTN) ENSP00000340554.6:p.Lys22803Ter
ENST00000342992.10:c.87322A>T (TTN) ENSP00000343764.6:p.Lys29108Ter
ENST00000359218.9:c.68206A>T (TTN) ENSP00000352154.5:p.Lys22736Ter
ENST00000460472.6:c.67831A>T (TTN) ENSP00000434586.1:p.Lys22611Ter
ENST00000589042.5:c.95026A>T (TTN) MANE Select ENSP00000467141.1:p.Lys31676Ter
ENST00000591111.5:c.90103A>T (TTN) ENSP00000465570.1:p.Lys30035Ter
ENST00000615779.4:c.90103A>T (TTN) ENSP00000483597.1:p.Lys30035Ter
NM_001256850.1:c.90103A>T (TTN) NP_001243779.1:p.Lys30035Ter
NM_001267550.2:c.95026A>T (TTN) MANE Select NP_001254479.2:p.Lys31676Ter
NM_003319.4:c.67831A>T (TTN) NP_003310.4:p.Lys22611Ter
NM_133378.4:c.87322A>T (TTN) NP_596869.4:p.Lys29108Ter
NM_133432.3:c.68206A>T (TTN) NP_597676.3:p.Lys22736Ter
NM_133437.4:c.68407A>T (TTN) NP_597681.4:p.Lys22803Ter
NR_038271.1:n.446+22669T>A (TTN-AS1)
NR_038272.1:n.2043+3944T>A (TTN-AS1)
XM_011511729.1:c.94123A>T (TTN) XP_011510031.1:p.Lys31375Ter
XM_011511730.1:c.68017A>T (TTN) XP_011510032.1:p.Lys22673Ter
XM_011511731.1:c.67876A>T (TTN) XP_011510033.1:p.Lys22626Ter
XM_017004819.1:c.93919A>T (TTN) XP_016860308.1:p.Lys31307Ter
XM_017004820.1:c.89317A>T (TTN) XP_016860309.1:p.Lys29773Ter
XM_017004821.1:c.89314A>T (TTN) XP_016860310.1:p.Lys29772Ter
XM_017004822.1:c.86356A>T (TTN) XP_016860311.1:p.Lys28786Ter
XM_017004823.1:c.67972A>T (TTN) XP_016860312.1:p.Lys22658Ter
XM_024453094.1:c.89467A>T (TTN) XP_024308862.1:p.Lys29823Ter
XM_024453095.1:c.89464A>T (TTN) XP_024308863.1:p.Lys29822Ter
XM_024453096.1:c.88897A>T (TTN) XP_024308864.1:p.Lys29633Ter
XM_024453097.1:c.86239A>T (TTN) XP_024308865.1:p.Lys28747Ter
XM_024453098.1:c.86158A>T (TTN) XP_024308866.1:p.Lys28720Ter
XM_024453099.1:c.67921A>T (TTN) XP_024308867.1:p.Lys22641Ter
XM_024453100.1:c.57775A>T (TTN) XP_024308868.1:p.Lys19259Ter