Canonical Allele Identifier: CA349406159

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530302T>A , CM000664.2:g.178530302T>A GRCh38
NC_000002.11:g.179395029T>A , CM000664.1:g.179395029T>A GRCh37
NC_000002.10:g.179103275T>A NCBI36
NG_011618.3:g.305501A>T , LRG_391:g.305501A>T
NG_051363.1:g.12476T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.98609A>T (TTN) ENSP00000343764.6:p.Lys32870Ile
ENST00000342175.11:c.79694A>T (TTN) ENSP00000340554.6:p.Lys26565Ile
ENST00000359218.10:c.79493A>T (TTN) ENSP00000352154.5:p.Lys26498Ile
ENST00000342175.10:c.79694A>T (TTN) ENSP00000340554.6:p.Lys26565Ile
ENST00000342992.10:c.98609A>T (TTN) ENSP00000343764.6:p.Lys32870Ile
ENST00000359218.9:c.79493A>T (TTN) ENSP00000352154.5:p.Lys26498Ile
ENST00000460472.6:c.79118A>T (TTN) ENSP00000434586.1:p.Lys26373Ile
ENST00000589042.5:c.106313A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35438Ile
ENST00000591111.5:c.101390A>T (TTN) ENSP00000465570.1:p.Lys33797Ile
ENST00000615779.4:c.101390A>T (TTN) ENSP00000483597.1:p.Lys33797Ile
NM_001256850.1:c.101390A>T (TTN) NP_001243779.1:p.Lys33797Ile
NM_001267550.2:c.106313A>T (TTN) MANE Select NP_001254479.2:p.Lys35438Ile
NM_003319.4:c.79118A>T (TTN) NP_003310.4:p.Lys26373Ile
NM_133378.4:c.98609A>T (TTN) NP_596869.4:p.Lys32870Ile
NM_133432.3:c.79493A>T (TTN) NP_597676.3:p.Lys26498Ile
NM_133437.4:c.79694A>T (TTN) NP_597681.4:p.Lys26565Ile
NR_038271.1:n.446+6666T>A (TTN-AS1)
NR_038272.1:n.220-5430T>A (TTN-AS1)
XM_011511729.1:c.105410A>T (TTN) XP_011510031.1:p.Lys35137Ile
XM_011511730.1:c.79304A>T (TTN) XP_011510032.1:p.Lys26435Ile
XM_011511731.1:c.79163A>T (TTN) XP_011510033.1:p.Lys26388Ile
XM_017004819.1:c.105206A>T (TTN) XP_016860308.1:p.Lys35069Ile
XM_017004820.1:c.100604A>T (TTN) XP_016860309.1:p.Lys33535Ile
XM_017004821.1:c.100601A>T (TTN) XP_016860310.1:p.Lys33534Ile
XM_017004822.1:c.97643A>T (TTN) XP_016860311.1:p.Lys32548Ile
XM_017004823.1:c.79259A>T (TTN) XP_016860312.1:p.Lys26420Ile
XM_024453094.1:c.100754A>T (TTN) XP_024308862.1:p.Lys33585Ile
XM_024453095.1:c.100751A>T (TTN) XP_024308863.1:p.Lys33584Ile
XM_024453096.1:c.100184A>T (TTN) XP_024308864.1:p.Lys33395Ile
XM_024453097.1:c.97526A>T (TTN) XP_024308865.1:p.Lys32509Ile
XM_024453098.1:c.97445A>T (TTN) XP_024308866.1:p.Lys32482Ile
XM_024453099.1:c.79208A>T (TTN) XP_024308867.1:p.Lys26403Ile
XM_024453100.1:c.69062A>T (TTN) XP_024308868.1:p.Lys23021Ile