Canonical Allele Identifier: CA349405599

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530106T>A , CM000664.2:g.178530106T>A GRCh38
NC_000002.11:g.179394833T>A , CM000664.1:g.179394833T>A GRCh37
NC_000002.10:g.179103079T>A NCBI36
NG_011618.3:g.305697A>T , LRG_391:g.305697A>T
NG_051363.1:g.12280T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98681A>T (TTN) ENSP00000343764.6:p.Gln32894Leu
ENST00000342175.11:c.79766A>T (TTN) ENSP00000340554.6:p.Gln26589Leu
ENST00000359218.10:c.79565A>T (TTN) ENSP00000352154.5:p.Gln26522Leu
ENST00000342175.10:c.79766A>T (TTN) ENSP00000340554.6:p.Gln26589Leu
ENST00000342992.10:c.98681A>T (TTN) ENSP00000343764.6:p.Gln32894Leu
ENST00000359218.9:c.79565A>T (TTN) ENSP00000352154.5:p.Gln26522Leu
ENST00000460472.6:c.79190A>T (TTN) ENSP00000434586.1:p.Gln26397Leu
ENST00000589042.5:c.106385A>T (TTN) MANE Select ENSP00000467141.1:p.Gln35462Leu
ENST00000591111.5:c.101462A>T (TTN) ENSP00000465570.1:p.Gln33821Leu
ENST00000615779.4:c.101462A>T (TTN) ENSP00000483597.1:p.Gln33821Leu
NM_001256850.1:c.101462A>T (TTN) NP_001243779.1:p.Gln33821Leu
NM_001267550.2:c.106385A>T (TTN) MANE Select NP_001254479.2:p.Gln35462Leu
NM_003319.4:c.79190A>T (TTN) NP_003310.4:p.Gln26397Leu
NM_133378.4:c.98681A>T (TTN) NP_596869.4:p.Gln32894Leu
NM_133432.3:c.79565A>T (TTN) NP_597676.3:p.Gln26522Leu
NM_133437.4:c.79766A>T (TTN) NP_597681.4:p.Gln26589Leu
NR_038271.1:n.446+6470T>A (TTN-AS1)
NR_038272.1:n.220-5626T>A (TTN-AS1)
XM_011511729.1:c.105482A>T (TTN) XP_011510031.1:p.Gln35161Leu
XM_011511730.1:c.79376A>T (TTN) XP_011510032.1:p.Gln26459Leu
XM_011511731.1:c.79235A>T (TTN) XP_011510033.1:p.Gln26412Leu
XM_017004819.1:c.105278A>T (TTN) XP_016860308.1:p.Gln35093Leu
XM_017004820.1:c.100676A>T (TTN) XP_016860309.1:p.Gln33559Leu
XM_017004821.1:c.100673A>T (TTN) XP_016860310.1:p.Gln33558Leu
XM_017004822.1:c.97715A>T (TTN) XP_016860311.1:p.Gln32572Leu
XM_017004823.1:c.79331A>T (TTN) XP_016860312.1:p.Gln26444Leu
XM_024453094.1:c.100826A>T (TTN) XP_024308862.1:p.Gln33609Leu
XM_024453095.1:c.100823A>T (TTN) XP_024308863.1:p.Gln33608Leu
XM_024453096.1:c.100256A>T (TTN) XP_024308864.1:p.Gln33419Leu
XM_024453097.1:c.97598A>T (TTN) XP_024308865.1:p.Gln32533Leu
XM_024453098.1:c.97517A>T (TTN) XP_024308866.1:p.Gln32506Leu
XM_024453099.1:c.79280A>T (TTN) XP_024308867.1:p.Gln26427Leu
XM_024453100.1:c.69134A>T (TTN) XP_024308868.1:p.Gln23045Leu