Canonical Allele Identifier: CA1310530812
Community Standard Title: NM_001267550.2(TTN):c.77212C= (p.Gln25738=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568920G= , CM000664.2:g.178568920G= GRCh38
NC_000002.11:g.179433647G= , CM000664.1:g.179433647G= GRCh37
NC_000002.10:g.179141893G= NCBI36
NG_011618.3:g.266883C= , LRG_391:g.266883C=
NG_051363.1:g.51094G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77212C= (TTN) MANE Select NP_001254479.2:p.Gln25738=
ENST00000589042.5:c.77212C= (TTN) MANE Select ENSP00000467141.1:p.Gln25738=
NM_001256850.1:c.72289C= (TTN) NP_001243779.1:p.Gln24097=
NM_003319.4:c.50017C= (TTN) NP_003310.4:p.Gln16673=
NM_133378.4:c.69508C= (TTN) NP_596869.4:p.Gln23170=
NM_133432.3:c.50392C= (TTN) NP_597676.3:p.Gln16798=
NM_133437.4:c.50593C= (TTN) NP_597681.4:p.Gln16865=
NR_038271.1:n.447-2380G= (TTN-AS1)
NR_038272.1:n.2044-13652G= (TTN-AS1)
ENST00000342175.10:c.50593C= (TTN) ENSP00000340554.6:p.Gln16865=
ENST00000342175.11:c.50593C= (TTN) ENSP00000340554.6:p.Gln16865=
ENST00000342992.10:c.69508C= (TTN) ENSP00000343764.6:p.Gln23170=
ENST00000342992.11:c.69508C= (TTN) ENSP00000343764.6:p.Gln23170=
ENST00000359218.10:c.50392C= (TTN) ENSP00000352154.5:p.Gln16798=
ENST00000359218.9:c.50392C= (TTN) ENSP00000352154.5:p.Gln16798=
ENST00000460472.6:c.50017C= (TTN) ENSP00000434586.1:p.Gln16673=
ENST00000591111.5:c.72289C= (TTN) ENSP00000465570.1:p.Gln24097=
ENST00000615779.4:c.72289C= (TTN) ENSP00000483597.1:p.Gln24097=
XM_011511729.1:c.76309C= (TTN) XP_011510031.1:p.Gln25437=
XM_011511730.1:c.50203C= (TTN) XP_011510032.1:p.Gln16735=
XM_011511731.1:c.50062C= (TTN) XP_011510033.1:p.Gln16688=
XM_017004819.1:c.76105C= (TTN) XP_016860308.1:p.Gln25369=
XM_017004820.1:c.71503C= (TTN) XP_016860309.1:p.Gln23835=
XM_017004821.1:c.71500C= (TTN) XP_016860310.1:p.Gln23834=
XM_017004822.1:c.68542C= (TTN) XP_016860311.1:p.Gln22848=
XM_017004823.1:c.50158C= (TTN) XP_016860312.1:p.Gln16720=
XM_024453094.1:c.71653C= (TTN) XP_024308862.1:p.Gln23885=
XM_024453095.1:c.71650C= (TTN) XP_024308863.1:p.Gln23884=
XM_024453096.1:c.71083C= (TTN) XP_024308864.1:p.Gln23695=
XM_024453097.1:c.68425C= (TTN) XP_024308865.1:p.Gln22809=
XM_024453098.1:c.68344C= (TTN) XP_024308866.1:p.Gln22782=
XM_024453099.1:c.50107C= (TTN) XP_024308867.1:p.Gln16703=
XM_024453100.1:c.39961C= (TTN) XP_024308868.1:p.Gln13321=