Canonical Allele Identifier: CA349405839

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530252T>A , CM000664.2:g.178530252T>A GRCh38
NC_000002.11:g.179394979T>A , CM000664.1:g.179394979T>A GRCh37
NC_000002.10:g.179103225T>A NCBI36
NG_011618.3:g.305551A>T , LRG_391:g.305551A>T
NG_051363.1:g.12426T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98659A>T (TTN) ENSP00000343764.6:p.Lys32887Ter
ENST00000342175.11:c.79744A>T (TTN) ENSP00000340554.6:p.Lys26582Ter
ENST00000359218.10:c.79543A>T (TTN) ENSP00000352154.5:p.Lys26515Ter
ENST00000342175.10:c.79744A>T (TTN) ENSP00000340554.6:p.Lys26582Ter
ENST00000342992.10:c.98659A>T (TTN) ENSP00000343764.6:p.Lys32887Ter
ENST00000359218.9:c.79543A>T (TTN) ENSP00000352154.5:p.Lys26515Ter
ENST00000460472.6:c.79168A>T (TTN) ENSP00000434586.1:p.Lys26390Ter
ENST00000589042.5:c.106363A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35455Ter
ENST00000591111.5:c.101440A>T (TTN) ENSP00000465570.1:p.Lys33814Ter
ENST00000615779.4:c.101440A>T (TTN) ENSP00000483597.1:p.Lys33814Ter
NM_001256850.1:c.101440A>T (TTN) NP_001243779.1:p.Lys33814Ter
NM_001267550.2:c.106363A>T (TTN) MANE Select NP_001254479.2:p.Lys35455Ter
NM_003319.4:c.79168A>T (TTN) NP_003310.4:p.Lys26390Ter
NM_133378.4:c.98659A>T (TTN) NP_596869.4:p.Lys32887Ter
NM_133432.3:c.79543A>T (TTN) NP_597676.3:p.Lys26515Ter
NM_133437.4:c.79744A>T (TTN) NP_597681.4:p.Lys26582Ter
NR_038271.1:n.446+6616T>A (TTN-AS1)
NR_038272.1:n.220-5480T>A (TTN-AS1)
XM_011511729.1:c.105460A>T (TTN) XP_011510031.1:p.Lys35154Ter
XM_011511730.1:c.79354A>T (TTN) XP_011510032.1:p.Lys26452Ter
XM_011511731.1:c.79213A>T (TTN) XP_011510033.1:p.Lys26405Ter
XM_017004819.1:c.105256A>T (TTN) XP_016860308.1:p.Lys35086Ter
XM_017004820.1:c.100654A>T (TTN) XP_016860309.1:p.Lys33552Ter
XM_017004821.1:c.100651A>T (TTN) XP_016860310.1:p.Lys33551Ter
XM_017004822.1:c.97693A>T (TTN) XP_016860311.1:p.Lys32565Ter
XM_017004823.1:c.79309A>T (TTN) XP_016860312.1:p.Lys26437Ter
XM_024453094.1:c.100804A>T (TTN) XP_024308862.1:p.Lys33602Ter
XM_024453095.1:c.100801A>T (TTN) XP_024308863.1:p.Lys33601Ter
XM_024453096.1:c.100234A>T (TTN) XP_024308864.1:p.Lys33412Ter
XM_024453097.1:c.97576A>T (TTN) XP_024308865.1:p.Lys32526Ter
XM_024453098.1:c.97495A>T (TTN) XP_024308866.1:p.Lys32499Ter
XM_024453099.1:c.79258A>T (TTN) XP_024308867.1:p.Lys26420Ter
XM_024453100.1:c.69112A>T (TTN) XP_024308868.1:p.Lys23038Ter