Canonical Allele Identifier: CA349619188
Community Standard Title: NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570237T>A , CM000664.2:g.178570237T>A GRCh38
NC_000002.11:g.179434964T>A , CM000664.1:g.179434964T>A GRCh37
NC_000002.10:g.179143210T>A NCBI36
NG_011618.3:g.265566A>T , LRG_391:g.265566A>T
NG_051363.1:g.52411T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.75895A>T (TTN) MANE Select NP_001254479.2:p.Lys25299Ter
ENST00000589042.5:c.75895A>T (TTN) MANE Select ENSP00000467141.1:p.Lys25299Ter
NM_001256850.1:c.70972A>T (TTN) NP_001243779.1:p.Lys23658Ter
NM_003319.4:c.48700A>T (TTN) NP_003310.4:p.Lys16234Ter
NM_133378.4:c.68191A>T (TTN) NP_596869.4:p.Lys22731Ter
NM_133432.3:c.49075A>T (TTN) NP_597676.3:p.Lys16359Ter
NM_133437.4:c.49276A>T (TTN) NP_597681.4:p.Lys16426Ter
NR_038271.1:n.447-1063T>A (TTN-AS1)
NR_038272.1:n.2044-12335T>A (TTN-AS1)
ENST00000342175.10:c.49276A>T (TTN) ENSP00000340554.6:p.Lys16426Ter
ENST00000342175.11:c.49276A>T (TTN) ENSP00000340554.6:p.Lys16426Ter
ENST00000342992.10:c.68191A>T (TTN) ENSP00000343764.6:p.Lys22731Ter
ENST00000342992.11:c.68191A>T (TTN) ENSP00000343764.6:p.Lys22731Ter
ENST00000359218.10:c.49075A>T (TTN) ENSP00000352154.5:p.Lys16359Ter
ENST00000359218.9:c.49075A>T (TTN) ENSP00000352154.5:p.Lys16359Ter
ENST00000460472.6:c.48700A>T (TTN) ENSP00000434586.1:p.Lys16234Ter
ENST00000591111.5:c.70972A>T (TTN) ENSP00000465570.1:p.Lys23658Ter
ENST00000615779.4:c.70972A>T (TTN) ENSP00000483597.1:p.Lys23658Ter
XM_011511729.1:c.74992A>T (TTN) XP_011510031.1:p.Lys24998Ter
XM_011511730.1:c.48886A>T (TTN) XP_011510032.1:p.Lys16296Ter
XM_011511731.1:c.48745A>T (TTN) XP_011510033.1:p.Lys16249Ter
XM_017004819.1:c.74788A>T (TTN) XP_016860308.1:p.Lys24930Ter
XM_017004820.1:c.70186A>T (TTN) XP_016860309.1:p.Lys23396Ter
XM_017004821.1:c.70183A>T (TTN) XP_016860310.1:p.Lys23395Ter
XM_017004822.1:c.67225A>T (TTN) XP_016860311.1:p.Lys22409Ter
XM_017004823.1:c.48841A>T (TTN) XP_016860312.1:p.Lys16281Ter
XM_024453094.1:c.70336A>T (TTN) XP_024308862.1:p.Lys23446Ter
XM_024453095.1:c.70333A>T (TTN) XP_024308863.1:p.Lys23445Ter
XM_024453096.1:c.69766A>T (TTN) XP_024308864.1:p.Lys23256Ter
XM_024453097.1:c.67108A>T (TTN) XP_024308865.1:p.Lys22370Ter
XM_024453098.1:c.67027A>T (TTN) XP_024308866.1:p.Lys22343Ter
XM_024453099.1:c.48790A>T (TTN) XP_024308867.1:p.Lys16264Ter
XM_024453100.1:c.38644A>T (TTN) XP_024308868.1:p.Lys12882Ter