Canonical Allele Identifier: CA1310521117

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543845A= , CM000664.2:g.178543845A= GRCh38
NC_000002.11:g.179408572A= , CM000664.1:g.179408572A= GRCh37
NC_000002.10:g.179116818A= NCBI36
NG_011618.3:g.291958T= , LRG_391:g.291958T=
NG_051363.1:g.26019A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88595T= (TTN) ENSP00000343764.6:p.Val29532=
ENST00000342175.11:c.69680T= (TTN) ENSP00000340554.6:p.Val23227=
ENST00000359218.10:c.69479T= (TTN) ENSP00000352154.5:p.Val23160=
ENST00000342175.10:c.69680T= (TTN) ENSP00000340554.6:p.Val23227=
ENST00000342992.10:c.88595T= (TTN) ENSP00000343764.6:p.Val29532=
ENST00000359218.9:c.69479T= (TTN) ENSP00000352154.5:p.Val23160=
ENST00000460472.6:c.69104T= (TTN) ENSP00000434586.1:p.Val23035=
ENST00000589042.5:c.96299T= (TTN) MANE Select ENSP00000467141.1:p.Val32100=
ENST00000591111.5:c.91376T= (TTN) ENSP00000465570.1:p.Val30459=
ENST00000615779.4:c.91376T= (TTN) ENSP00000483597.1:p.Val30459=
NM_001256850.1:c.91376T= (TTN) NP_001243779.1:p.Val30459=
NM_001267550.2:c.96299T= (TTN) MANE Select NP_001254479.2:p.Val32100=
NM_003319.4:c.69104T= (TTN) NP_003310.4:p.Val23035=
NM_133378.4:c.88595T= (TTN) NP_596869.4:p.Val29532=
NM_133432.3:c.69479T= (TTN) NP_597676.3:p.Val23160=
NM_133437.4:c.69680T= (TTN) NP_597681.4:p.Val23227=
NR_038271.1:n.446+20209A= (TTN-AS1)
NR_038272.1:n.2043+1484A= (TTN-AS1)
XM_011511729.1:c.95396T= (TTN) XP_011510031.1:p.Val31799=
XM_011511730.1:c.69290T= (TTN) XP_011510032.1:p.Val23097=
XM_011511731.1:c.69149T= (TTN) XP_011510033.1:p.Val23050=
XM_017004819.1:c.95192T= (TTN) XP_016860308.1:p.Val31731=
XM_017004820.1:c.90590T= (TTN) XP_016860309.1:p.Val30197=
XM_017004821.1:c.90587T= (TTN) XP_016860310.1:p.Val30196=
XM_017004822.1:c.87629T= (TTN) XP_016860311.1:p.Val29210=
XM_017004823.1:c.69245T= (TTN) XP_016860312.1:p.Val23082=
XM_024453094.1:c.90740T= (TTN) XP_024308862.1:p.Val30247=
XM_024453095.1:c.90737T= (TTN) XP_024308863.1:p.Val30246=
XM_024453096.1:c.90170T= (TTN) XP_024308864.1:p.Val30057=
XM_024453097.1:c.87512T= (TTN) XP_024308865.1:p.Val29171=
XM_024453098.1:c.87431T= (TTN) XP_024308866.1:p.Val29144=
XM_024453099.1:c.69194T= (TTN) XP_024308867.1:p.Val23065=
XM_024453100.1:c.59048T= (TTN) XP_024308868.1:p.Val19683=