Canonical Allele Identifier: CA349405559

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530097T>A , CM000664.2:g.178530097T>A GRCh38
NC_000002.11:g.179394824T>A , CM000664.1:g.179394824T>A GRCh37
NC_000002.10:g.179103070T>A NCBI36
NG_011618.3:g.305706A>T , LRG_391:g.305706A>T
NG_051363.1:g.12271T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98690A>T (TTN) ENSP00000343764.6:p.Lys32897Ile
ENST00000342175.11:c.79775A>T (TTN) ENSP00000340554.6:p.Lys26592Ile
ENST00000359218.10:c.79574A>T (TTN) ENSP00000352154.5:p.Lys26525Ile
ENST00000342175.10:c.79775A>T (TTN) ENSP00000340554.6:p.Lys26592Ile
ENST00000342992.10:c.98690A>T (TTN) ENSP00000343764.6:p.Lys32897Ile
ENST00000359218.9:c.79574A>T (TTN) ENSP00000352154.5:p.Lys26525Ile
ENST00000460472.6:c.79199A>T (TTN) ENSP00000434586.1:p.Lys26400Ile
ENST00000589042.5:c.106394A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35465Ile
ENST00000591111.5:c.101471A>T (TTN) ENSP00000465570.1:p.Lys33824Ile
ENST00000615779.4:c.101471A>T (TTN) ENSP00000483597.1:p.Lys33824Ile
NM_001256850.1:c.101471A>T (TTN) NP_001243779.1:p.Lys33824Ile
NM_001267550.2:c.106394A>T (TTN) MANE Select NP_001254479.2:p.Lys35465Ile
NM_003319.4:c.79199A>T (TTN) NP_003310.4:p.Lys26400Ile
NM_133378.4:c.98690A>T (TTN) NP_596869.4:p.Lys32897Ile
NM_133432.3:c.79574A>T (TTN) NP_597676.3:p.Lys26525Ile
NM_133437.4:c.79775A>T (TTN) NP_597681.4:p.Lys26592Ile
NR_038271.1:n.446+6461T>A (TTN-AS1)
NR_038272.1:n.220-5635T>A (TTN-AS1)
XM_011511729.1:c.105491A>T (TTN) XP_011510031.1:p.Lys35164Ile
XM_011511730.1:c.79385A>T (TTN) XP_011510032.1:p.Lys26462Ile
XM_011511731.1:c.79244A>T (TTN) XP_011510033.1:p.Lys26415Ile
XM_017004819.1:c.105287A>T (TTN) XP_016860308.1:p.Lys35096Ile
XM_017004820.1:c.100685A>T (TTN) XP_016860309.1:p.Lys33562Ile
XM_017004821.1:c.100682A>T (TTN) XP_016860310.1:p.Lys33561Ile
XM_017004822.1:c.97724A>T (TTN) XP_016860311.1:p.Lys32575Ile
XM_017004823.1:c.79340A>T (TTN) XP_016860312.1:p.Lys26447Ile
XM_024453094.1:c.100835A>T (TTN) XP_024308862.1:p.Lys33612Ile
XM_024453095.1:c.100832A>T (TTN) XP_024308863.1:p.Lys33611Ile
XM_024453096.1:c.100265A>T (TTN) XP_024308864.1:p.Lys33422Ile
XM_024453097.1:c.97607A>T (TTN) XP_024308865.1:p.Lys32536Ile
XM_024453098.1:c.97526A>T (TTN) XP_024308866.1:p.Lys32509Ile
XM_024453099.1:c.79289A>T (TTN) XP_024308867.1:p.Lys26430Ile
XM_024453100.1:c.69143A>T (TTN) XP_024308868.1:p.Lys23048Ile