Canonical Allele Identifier: CA1993703
Community Standard Title: NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605099T>A , CM000664.2:g.178605099T>A GRCh38
NC_000002.11:g.179469826T>A , CM000664.1:g.179469826T>A GRCh37
NC_000002.10:g.179178071T>A NCBI36
NG_011618.3:g.230704A>T , LRG_391:g.230704A>T
NG_051363.1:g.87273T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54078A>T (TTN) MANE Select NP_001254479.2:p.Ala18026=
ENST00000589042.5:c.54078A>T (TTN) MANE Select ENSP00000467141.1:p.Ala18026=
NM_001256850.1:c.49155A>T (TTN) NP_001243779.1:p.Ala16385=
NM_003319.4:c.26883A>T (TTN) NP_003310.4:p.Ala8961=
NM_133378.4:c.46374A>T (TTN) NP_596869.4:p.Ala15458=
NM_133432.3:c.27258A>T (TTN) NP_597676.3:p.Ala9086=
NM_133437.4:c.27459A>T (TTN) NP_597681.4:p.Ala9153=
NR_038271.1:n.683-3068T>A (TTN-AS1)
NR_038272.1:n.4286T>A (TTN-AS1)
ENST00000342175.10:c.27459A>T (TTN) ENSP00000340554.6:p.Ala9153=
ENST00000342175.11:c.27459A>T (TTN) ENSP00000340554.6:p.Ala9153=
ENST00000342992.10:c.46374A>T (TTN) ENSP00000343764.6:p.Ala15458=
ENST00000342992.11:c.46374A>T (TTN) ENSP00000343764.6:p.Ala15458=
ENST00000359218.10:c.27258A>T (TTN) ENSP00000352154.5:p.Ala9086=
ENST00000359218.9:c.27258A>T (TTN) ENSP00000352154.5:p.Ala9086=
ENST00000460472.6:c.26883A>T (TTN) ENSP00000434586.1:p.Ala8961=
ENST00000591111.5:c.49155A>T (TTN) ENSP00000465570.1:p.Ala16385=
ENST00000615779.4:c.49155A>T (TTN) ENSP00000483597.1:p.Ala16385=
XM_011511729.1:c.53175A>T (TTN) XP_011510031.1:p.Ala17725=
XM_011511730.1:c.27069A>T (TTN) XP_011510032.1:p.Ala9023=
XM_011511731.1:c.26928A>T (TTN) XP_011510033.1:p.Ala8976=
XM_017004819.1:c.52971A>T (TTN) XP_016860308.1:p.Ala17657=
XM_017004820.1:c.48369A>T (TTN) XP_016860309.1:p.Ala16123=
XM_017004821.1:c.48366A>T (TTN) XP_016860310.1:p.Ala16122=
XM_017004822.1:c.45408A>T (TTN) XP_016860311.1:p.Ala15136=
XM_017004823.1:c.27024A>T (TTN) XP_016860312.1:p.Ala9008=
XM_024453094.1:c.48519A>T (TTN) XP_024308862.1:p.Ala16173=
XM_024453095.1:c.48516A>T (TTN) XP_024308863.1:p.Ala16172=
XM_024453096.1:c.47949A>T (TTN) XP_024308864.1:p.Ala15983=
XM_024453097.1:c.45291A>T (TTN) XP_024308865.1:p.Ala15097=
XM_024453098.1:c.45210A>T (TTN) XP_024308866.1:p.Ala15070=
XM_024453099.1:c.26973A>T (TTN) XP_024308867.1:p.Ala8991=
XM_024453100.1:c.16827A>T (TTN) XP_024308868.1:p.Ala5609=