Canonical Allele Identifier: CA349411740

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532181T>A , CM000664.2:g.178532181T>A GRCh38
NC_000002.11:g.179396908T>A , CM000664.1:g.179396908T>A GRCh37
NC_000002.10:g.179105154T>A NCBI36
NG_011618.3:g.303622A>T , LRG_391:g.303622A>T
NG_051363.1:g.14355T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96730A>T (TTN) ENSP00000343764.6:p.Ile32244Leu
ENST00000342175.11:c.77815A>T (TTN) ENSP00000340554.6:p.Ile25939Leu
ENST00000359218.10:c.77614A>T (TTN) ENSP00000352154.5:p.Ile25872Leu
ENST00000342175.10:c.77815A>T (TTN) ENSP00000340554.6:p.Ile25939Leu
ENST00000342992.10:c.96730A>T (TTN) ENSP00000343764.6:p.Ile32244Leu
ENST00000359218.9:c.77614A>T (TTN) ENSP00000352154.5:p.Ile25872Leu
ENST00000460472.6:c.77239A>T (TTN) ENSP00000434586.1:p.Ile25747Leu
ENST00000589042.5:c.104434A>T (TTN) MANE Select ENSP00000467141.1:p.Ile34812Leu
ENST00000591111.5:c.99511A>T (TTN) ENSP00000465570.1:p.Ile33171Leu
ENST00000615779.4:c.99511A>T (TTN) ENSP00000483597.1:p.Ile33171Leu
NM_001256850.1:c.99511A>T (TTN) NP_001243779.1:p.Ile33171Leu
NM_001267550.2:c.104434A>T (TTN) MANE Select NP_001254479.2:p.Ile34812Leu
NM_003319.4:c.77239A>T (TTN) NP_003310.4:p.Ile25747Leu
NM_133378.4:c.96730A>T (TTN) NP_596869.4:p.Ile32244Leu
NM_133432.3:c.77614A>T (TTN) NP_597676.3:p.Ile25872Leu
NM_133437.4:c.77815A>T (TTN) NP_597681.4:p.Ile25939Leu
NR_038271.1:n.446+8545T>A (TTN-AS1)
NR_038272.1:n.220-3551T>A (TTN-AS1)
XM_011511729.1:c.103531A>T (TTN) XP_011510031.1:p.Ile34511Leu
XM_011511730.1:c.77425A>T (TTN) XP_011510032.1:p.Ile25809Leu
XM_011511731.1:c.77284A>T (TTN) XP_011510033.1:p.Ile25762Leu
XM_017004819.1:c.103327A>T (TTN) XP_016860308.1:p.Ile34443Leu
XM_017004820.1:c.98725A>T (TTN) XP_016860309.1:p.Ile32909Leu
XM_017004821.1:c.98722A>T (TTN) XP_016860310.1:p.Ile32908Leu
XM_017004822.1:c.95764A>T (TTN) XP_016860311.1:p.Ile31922Leu
XM_017004823.1:c.77380A>T (TTN) XP_016860312.1:p.Ile25794Leu
XM_024453094.1:c.98875A>T (TTN) XP_024308862.1:p.Ile32959Leu
XM_024453095.1:c.98872A>T (TTN) XP_024308863.1:p.Ile32958Leu
XM_024453096.1:c.98305A>T (TTN) XP_024308864.1:p.Ile32769Leu
XM_024453097.1:c.95647A>T (TTN) XP_024308865.1:p.Ile31883Leu
XM_024453098.1:c.95566A>T (TTN) XP_024308866.1:p.Ile31856Leu
XM_024453099.1:c.77329A>T (TTN) XP_024308867.1:p.Ile25777Leu
XM_024453100.1:c.67183A>T (TTN) XP_024308868.1:p.Ile22395Leu