Canonical Allele Identifier: CA430250497
Community Standard Title: NM_001267550.2(TTN):c.82122A>G (p.Glu27374=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564010T>C , CM000664.2:g.178564010T>C GRCh38
NC_000002.11:g.179428737T>C , CM000664.1:g.179428737T>C GRCh37
NC_000002.10:g.179136983T>C NCBI36
NG_011618.3:g.271793A>G , LRG_391:g.271793A>G
NG_051363.1:g.46184T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82122A>G (TTN) MANE Select NP_001254479.2:p.Glu27374=
ENST00000589042.5:c.82122A>G (TTN) MANE Select ENSP00000467141.1:p.Glu27374=
NM_001256850.1:c.77199A>G (TTN) NP_001243779.1:p.Glu25733=
NM_003319.4:c.54927A>G (TTN) NP_003310.4:p.Glu18309=
NM_133378.4:c.74418A>G (TTN) NP_596869.4:p.Glu24806=
NM_133432.3:c.55302A>G (TTN) NP_597676.3:p.Glu18434=
NM_133437.4:c.55503A>G (TTN) NP_597681.4:p.Glu18501=
NR_038271.1:n.447-7290T>C (TTN-AS1)
NR_038272.1:n.2044-18562T>C (TTN-AS1)
ENST00000342175.10:c.55503A>G (TTN) ENSP00000340554.6:p.Glu18501=
ENST00000342175.11:c.55503A>G (TTN) ENSP00000340554.6:p.Glu18501=
ENST00000342992.10:c.74418A>G (TTN) ENSP00000343764.6:p.Glu24806=
ENST00000342992.11:c.74418A>G (TTN) ENSP00000343764.6:p.Glu24806=
ENST00000359218.10:c.55302A>G (TTN) ENSP00000352154.5:p.Glu18434=
ENST00000359218.9:c.55302A>G (TTN) ENSP00000352154.5:p.Glu18434=
ENST00000460472.6:c.54927A>G (TTN) ENSP00000434586.1:p.Glu18309=
ENST00000591111.5:c.77199A>G (TTN) ENSP00000465570.1:p.Glu25733=
ENST00000615779.4:c.77199A>G (TTN) ENSP00000483597.1:p.Glu25733=
XM_011511729.1:c.81219A>G (TTN) XP_011510031.1:p.Glu27073=
XM_011511730.1:c.55113A>G (TTN) XP_011510032.1:p.Glu18371=
XM_011511731.1:c.54972A>G (TTN) XP_011510033.1:p.Glu18324=
XM_017004819.1:c.81015A>G (TTN) XP_016860308.1:p.Glu27005=
XM_017004820.1:c.76413A>G (TTN) XP_016860309.1:p.Glu25471=
XM_017004821.1:c.76410A>G (TTN) XP_016860310.1:p.Glu25470=
XM_017004822.1:c.73452A>G (TTN) XP_016860311.1:p.Glu24484=
XM_017004823.1:c.55068A>G (TTN) XP_016860312.1:p.Glu18356=
XM_024453094.1:c.76563A>G (TTN) XP_024308862.1:p.Glu25521=
XM_024453095.1:c.76560A>G (TTN) XP_024308863.1:p.Glu25520=
XM_024453096.1:c.75993A>G (TTN) XP_024308864.1:p.Glu25331=
XM_024453097.1:c.73335A>G (TTN) XP_024308865.1:p.Glu24445=
XM_024453098.1:c.73254A>G (TTN) XP_024308866.1:p.Glu24418=
XM_024453099.1:c.55017A>G (TTN) XP_024308867.1:p.Glu18339=
XM_024453100.1:c.44871A>G (TTN) XP_024308868.1:p.Glu14957=