Canonical Allele Identifier: CA1310528019

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562851C= , CM000664.2:g.178562851C= GRCh38
NC_000002.11:g.179427578C= , CM000664.1:g.179427578C= GRCh37
NC_000002.10:g.179135824C= NCBI36
NG_011618.3:g.272952G= , LRG_391:g.272952G=
NG_051363.1:g.45025C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.75577G= (TTN) ENSP00000343764.6:p.Val25193=
ENST00000342175.11:c.56662G= (TTN) ENSP00000340554.6:p.Val18888=
ENST00000359218.10:c.56461G= (TTN) ENSP00000352154.5:p.Val18821=
ENST00000342175.10:c.56662G= (TTN) ENSP00000340554.6:p.Val18888=
ENST00000342992.10:c.75577G= (TTN) ENSP00000343764.6:p.Val25193=
ENST00000359218.9:c.56461G= (TTN) ENSP00000352154.5:p.Val18821=
ENST00000460472.6:c.56086G= (TTN) ENSP00000434586.1:p.Val18696=
ENST00000589042.5:c.83281G= (TTN) MANE Select ENSP00000467141.1:p.Val27761=
ENST00000591111.5:c.78358G= (TTN) ENSP00000465570.1:p.Val26120=
ENST00000615779.4:c.78358G= (TTN) ENSP00000483597.1:p.Val26120=
NM_001256850.1:c.78358G= (TTN) NP_001243779.1:p.Val26120=
NM_001267550.2:c.83281G= (TTN) MANE Select NP_001254479.2:p.Val27761=
NM_003319.4:c.56086G= (TTN) NP_003310.4:p.Val18696=
NM_133378.4:c.75577G= (TTN) NP_596869.4:p.Val25193=
NM_133432.3:c.56461G= (TTN) NP_597676.3:p.Val18821=
NM_133437.4:c.56662G= (TTN) NP_597681.4:p.Val18888=
NR_038271.1:n.447-8449C= (TTN-AS1)
NR_038272.1:n.2044-19721C= (TTN-AS1)
XM_011511729.1:c.82378G= (TTN) XP_011510031.1:p.Val27460=
XM_011511730.1:c.56272G= (TTN) XP_011510032.1:p.Val18758=
XM_011511731.1:c.56131G= (TTN) XP_011510033.1:p.Val18711=
XM_017004819.1:c.82174G= (TTN) XP_016860308.1:p.Val27392=
XM_017004820.1:c.77572G= (TTN) XP_016860309.1:p.Val25858=
XM_017004821.1:c.77569G= (TTN) XP_016860310.1:p.Val25857=
XM_017004822.1:c.74611G= (TTN) XP_016860311.1:p.Val24871=
XM_017004823.1:c.56227G= (TTN) XP_016860312.1:p.Val18743=
XM_024453094.1:c.77722G= (TTN) XP_024308862.1:p.Val25908=
XM_024453095.1:c.77719G= (TTN) XP_024308863.1:p.Val25907=
XM_024453096.1:c.77152G= (TTN) XP_024308864.1:p.Val25718=
XM_024453097.1:c.74494G= (TTN) XP_024308865.1:p.Val24832=
XM_024453098.1:c.74413G= (TTN) XP_024308866.1:p.Val24805=
XM_024453099.1:c.56176G= (TTN) XP_024308867.1:p.Val18726=
XM_024453100.1:c.46030G= (TTN) XP_024308868.1:p.Val15344=