Canonical Allele Identifier: CA1310549419

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614558A= , CM000664.2:g.178614558A= GRCh38
NC_000002.11:g.179479285A= , CM000664.1:g.179479285A= GRCh37
NC_000002.10:g.179187530A= NCBI36
NG_011618.3:g.221245T= , LRG_391:g.221245T=
NG_051363.1:g.96732A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41252T= (TTN) ENSP00000343764.6:p.Val13751=
ENST00000342175.11:c.22337T= (TTN) ENSP00000340554.6:p.Val7446=
ENST00000359218.10:c.22136T= (TTN) ENSP00000352154.5:p.Val7379=
ENST00000342175.10:c.22337T= (TTN) ENSP00000340554.6:p.Val7446=
ENST00000342992.10:c.41252T= (TTN) ENSP00000343764.6:p.Val13751=
ENST00000359218.9:c.22136T= (TTN) ENSP00000352154.5:p.Val7379=
ENST00000460472.6:c.21761T= (TTN) ENSP00000434586.1:p.Val7254=
ENST00000589042.5:c.48956T= (TTN) MANE Select ENSP00000467141.1:p.Val16319=
ENST00000591111.5:c.44033T= (TTN) ENSP00000465570.1:p.Val14678=
ENST00000615779.4:c.44033T= (TTN) ENSP00000483597.1:p.Val14678=
NM_001256850.1:c.44033T= (TTN) NP_001243779.1:p.Val14678=
NM_001267550.2:c.48956T= (TTN) MANE Select NP_001254479.2:p.Val16319=
NM_003319.4:c.21761T= (TTN) NP_003310.4:p.Val7254=
NM_133378.4:c.41252T= (TTN) NP_596869.4:p.Val13751=
NM_133432.3:c.22136T= (TTN) NP_597676.3:p.Val7379=
NM_133437.4:c.22337T= (TTN) NP_597681.4:p.Val7446=
NR_038271.1:n.1306A= (TTN-AS1)
XM_011511729.1:c.48053T= (TTN) XP_011510031.1:p.Val16018=
XM_011511730.1:c.21947T= (TTN) XP_011510032.1:p.Val7316=
XM_011511731.1:c.21806T= (TTN) XP_011510033.1:p.Val7269=
XM_017004819.1:c.47849T= (TTN) XP_016860308.1:p.Val15950=
XM_017004820.1:c.43247T= (TTN) XP_016860309.1:p.Val14416=
XM_017004821.1:c.43244T= (TTN) XP_016860310.1:p.Val14415=
XM_017004822.1:c.40286T= (TTN) XP_016860311.1:p.Val13429=
XM_017004823.1:c.21902T= (TTN) XP_016860312.1:p.Val7301=
XM_024453094.1:c.43397T= (TTN) XP_024308862.1:p.Val14466=
XM_024453095.1:c.43394T= (TTN) XP_024308863.1:p.Val14465=
XM_024453096.1:c.42827T= (TTN) XP_024308864.1:p.Val14276=
XM_024453097.1:c.40169T= (TTN) XP_024308865.1:p.Val13390=
XM_024453098.1:c.40088T= (TTN) XP_024308866.1:p.Val13363=
XM_024453099.1:c.21851T= (TTN) XP_024308867.1:p.Val7284=
XM_024453100.1:c.11705T= (TTN) XP_024308868.1:p.Val3902=