Canonical Allele Identifier: CA349407255

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530617T>A , CM000664.2:g.178530617T>A GRCh38
NC_000002.11:g.179395344T>A , CM000664.1:g.179395344T>A GRCh37
NC_000002.10:g.179103590T>A NCBI36
NG_011618.3:g.305186A>T , LRG_391:g.305186A>T
NG_051363.1:g.12791T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98294A>T (TTN) ENSP00000343764.6:p.Gln32765Leu
ENST00000342175.11:c.79379A>T (TTN) ENSP00000340554.6:p.Gln26460Leu
ENST00000359218.10:c.79178A>T (TTN) ENSP00000352154.5:p.Gln26393Leu
ENST00000342175.10:c.79379A>T (TTN) ENSP00000340554.6:p.Gln26460Leu
ENST00000342992.10:c.98294A>T (TTN) ENSP00000343764.6:p.Gln32765Leu
ENST00000359218.9:c.79178A>T (TTN) ENSP00000352154.5:p.Gln26393Leu
ENST00000460472.6:c.78803A>T (TTN) ENSP00000434586.1:p.Gln26268Leu
ENST00000589042.5:c.105998A>T (TTN) MANE Select ENSP00000467141.1:p.Gln35333Leu
ENST00000591111.5:c.101075A>T (TTN) ENSP00000465570.1:p.Gln33692Leu
ENST00000615779.4:c.101075A>T (TTN) ENSP00000483597.1:p.Gln33692Leu
NM_001256850.1:c.101075A>T (TTN) NP_001243779.1:p.Gln33692Leu
NM_001267550.2:c.105998A>T (TTN) MANE Select NP_001254479.2:p.Gln35333Leu
NM_003319.4:c.78803A>T (TTN) NP_003310.4:p.Gln26268Leu
NM_133378.4:c.98294A>T (TTN) NP_596869.4:p.Gln32765Leu
NM_133432.3:c.79178A>T (TTN) NP_597676.3:p.Gln26393Leu
NM_133437.4:c.79379A>T (TTN) NP_597681.4:p.Gln26460Leu
NR_038271.1:n.446+6981T>A (TTN-AS1)
NR_038272.1:n.220-5115T>A (TTN-AS1)
XM_011511729.1:c.105095A>T (TTN) XP_011510031.1:p.Gln35032Leu
XM_011511730.1:c.78989A>T (TTN) XP_011510032.1:p.Gln26330Leu
XM_011511731.1:c.78848A>T (TTN) XP_011510033.1:p.Gln26283Leu
XM_017004819.1:c.104891A>T (TTN) XP_016860308.1:p.Gln34964Leu
XM_017004820.1:c.100289A>T (TTN) XP_016860309.1:p.Gln33430Leu
XM_017004821.1:c.100286A>T (TTN) XP_016860310.1:p.Gln33429Leu
XM_017004822.1:c.97328A>T (TTN) XP_016860311.1:p.Gln32443Leu
XM_017004823.1:c.78944A>T (TTN) XP_016860312.1:p.Gln26315Leu
XM_024453094.1:c.100439A>T (TTN) XP_024308862.1:p.Gln33480Leu
XM_024453095.1:c.100436A>T (TTN) XP_024308863.1:p.Gln33479Leu
XM_024453096.1:c.99869A>T (TTN) XP_024308864.1:p.Gln33290Leu
XM_024453097.1:c.97211A>T (TTN) XP_024308865.1:p.Gln32404Leu
XM_024453098.1:c.97130A>T (TTN) XP_024308866.1:p.Gln32377Leu
XM_024453099.1:c.78893A>T (TTN) XP_024308867.1:p.Gln26298Leu
XM_024453100.1:c.68747A>T (TTN) XP_024308868.1:p.Gln22916Leu