Canonical Allele Identifier: CA430270728
Community Standard Title: NM_001267550.2(TTN):c.52740C>T (p.Asp17580=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608047G>A , CM000664.2:g.178608047G>A GRCh38
NC_000002.11:g.179472774G>A , CM000664.1:g.179472774G>A GRCh37
NC_000002.10:g.179181019G>A NCBI36
NG_011618.3:g.227756C>T , LRG_391:g.227756C>T
NG_051363.1:g.90221G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52740C>T (TTN) MANE Select NP_001254479.2:p.Asp17580=
ENST00000589042.5:c.52740C>T (TTN) MANE Select ENSP00000467141.1:p.Asp17580=
NM_001256850.1:c.47817C>T (TTN) NP_001243779.1:p.Asp15939=
NM_003319.4:c.25545C>T (TTN) NP_003310.4:p.Asp8515=
NM_133378.4:c.45036C>T (TTN) NP_596869.4:p.Asp15012=
NM_133432.3:c.25920C>T (TTN) NP_597676.3:p.Asp8640=
NM_133437.4:c.26121C>T (TTN) NP_597681.4:p.Asp8707=
NR_038271.1:n.683-120G>A (TTN-AS1)
ENST00000342175.10:c.26121C>T (TTN) ENSP00000340554.6:p.Asp8707=
ENST00000342175.11:c.26121C>T (TTN) ENSP00000340554.6:p.Asp8707=
ENST00000342992.10:c.45036C>T (TTN) ENSP00000343764.6:p.Asp15012=
ENST00000342992.11:c.45036C>T (TTN) ENSP00000343764.6:p.Asp15012=
ENST00000359218.10:c.25920C>T (TTN) ENSP00000352154.5:p.Asp8640=
ENST00000359218.9:c.25920C>T (TTN) ENSP00000352154.5:p.Asp8640=
ENST00000460472.6:c.25545C>T (TTN) ENSP00000434586.1:p.Asp8515=
ENST00000591111.5:c.47817C>T (TTN) ENSP00000465570.1:p.Asp15939=
ENST00000615779.4:c.47817C>T (TTN) ENSP00000483597.1:p.Asp15939=
XM_011511729.1:c.51837C>T (TTN) XP_011510031.1:p.Asp17279=
XM_011511730.1:c.25731C>T (TTN) XP_011510032.1:p.Asp8577=
XM_011511731.1:c.25590C>T (TTN) XP_011510033.1:p.Asp8530=
XM_017004819.1:c.51633C>T (TTN) XP_016860308.1:p.Asp17211=
XM_017004820.1:c.47031C>T (TTN) XP_016860309.1:p.Asp15677=
XM_017004821.1:c.47028C>T (TTN) XP_016860310.1:p.Asp15676=
XM_017004822.1:c.44070C>T (TTN) XP_016860311.1:p.Asp14690=
XM_017004823.1:c.25686C>T (TTN) XP_016860312.1:p.Asp8562=
XM_024453094.1:c.47181C>T (TTN) XP_024308862.1:p.Asp15727=
XM_024453095.1:c.47178C>T (TTN) XP_024308863.1:p.Asp15726=
XM_024453096.1:c.46611C>T (TTN) XP_024308864.1:p.Asp15537=
XM_024453097.1:c.43953C>T (TTN) XP_024308865.1:p.Asp14651=
XM_024453098.1:c.43872C>T (TTN) XP_024308866.1:p.Asp14624=
XM_024453099.1:c.25635C>T (TTN) XP_024308867.1:p.Asp8545=
XM_024453100.1:c.15489C>T (TTN) XP_024308868.1:p.Asp5163=