Canonical Allele Identifier: CA1310522121

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552568A= , CM000664.2:g.178552568A= GRCh38
NC_000002.11:g.179417295A= , CM000664.1:g.179417295A= GRCh37
NC_000002.10:g.179125541A= NCBI36
NG_011618.3:g.283235T= , LRG_391:g.283235T=
NG_051363.1:g.34742A=

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82628T= (TTN) ENSP00000343764.6:p.Leu27543=
ENST00000342175.11:c.63713T= (TTN) ENSP00000340554.6:p.Leu21238=
ENST00000359218.10:c.63512T= (TTN) ENSP00000352154.5:p.Leu21171=
ENST00000342175.10:c.63713T= (TTN) ENSP00000340554.6:p.Leu21238=
ENST00000342992.10:c.82628T= (TTN) ENSP00000343764.6:p.Leu27543=
ENST00000359218.9:c.63512T= (TTN) ENSP00000352154.5:p.Leu21171=
ENST00000460472.6:c.63137T= (TTN) ENSP00000434586.1:p.Leu21046=
ENST00000589042.5:c.90332T= (TTN) MANE Select ENSP00000467141.1:p.Leu30111=
ENST00000591111.5:c.85409T= (TTN) ENSP00000465570.1:p.Leu28470=
ENST00000615779.4:c.85409T= (TTN) ENSP00000483597.1:p.Leu28470=
NM_001256850.1:c.85409T= (TTN) NP_001243779.1:p.Leu28470=
NM_001267550.2:c.90332T= (TTN) MANE Select NP_001254479.2:p.Leu30111=
NM_003319.4:c.63137T= (TTN) NP_003310.4:p.Leu21046=
NM_133378.4:c.82628T= (TTN) NP_596869.4:p.Leu27543=
NM_133432.3:c.63512T= (TTN) NP_597676.3:p.Leu21171=
NM_133437.4:c.63713T= (TTN) NP_597681.4:p.Leu21238=
NR_038271.1:n.447-18732A= (TTN-AS1)
NR_038272.1:n.2043+10207A= (TTN-AS1)
XM_011511729.1:c.89429T= (TTN) XP_011510031.1:p.Leu29810=
XM_011511730.1:c.63323T= (TTN) XP_011510032.1:p.Leu21108=
XM_011511731.1:c.63182T= (TTN) XP_011510033.1:p.Leu21061=
XM_017004819.1:c.89225T= (TTN) XP_016860308.1:p.Leu29742=
XM_017004820.1:c.84623T= (TTN) XP_016860309.1:p.Leu28208=
XM_017004821.1:c.84620T= (TTN) XP_016860310.1:p.Leu28207=
XM_017004822.1:c.81662T= (TTN) XP_016860311.1:p.Leu27221=
XM_017004823.1:c.63278T= (TTN) XP_016860312.1:p.Leu21093=
XM_024453094.1:c.84773T= (TTN) XP_024308862.1:p.Leu28258=
XM_024453095.1:c.84770T= (TTN) XP_024308863.1:p.Leu28257=
XM_024453096.1:c.84203T= (TTN) XP_024308864.1:p.Leu28068=
XM_024453097.1:c.81545T= (TTN) XP_024308865.1:p.Leu27182=
XM_024453098.1:c.81464T= (TTN) XP_024308866.1:p.Leu27155=
XM_024453099.1:c.63227T= (TTN) XP_024308867.1:p.Leu21076=
XM_024453100.1:c.53081T= (TTN) XP_024308868.1:p.Leu17694=