Canonical Allele Identifier: CA310433
Community Standard Title: NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574343T>A , CM000664.2:g.178574343T>A GRCh38
NC_000002.11:g.179439070T>A , CM000664.1:g.179439070T>A GRCh37
NC_000002.10:g.179147316T>A NCBI36
NG_011618.3:g.261460A>T , LRG_391:g.261460A>T
NG_051363.1:g.56517T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.71789A>T (TTN) MANE Select NP_001254479.2:p.Lys23930Ile
ENST00000589042.5:c.71789A>T (TTN) MANE Select ENSP00000467141.1:p.Lys23930Ile
NM_001256850.1:c.66866A>T (TTN) NP_001243779.1:p.Lys22289Ile
NM_003319.4:c.44594A>T (TTN) NP_003310.4:p.Lys14865Ile
NM_133378.4:c.64085A>T (TTN) NP_596869.4:p.Lys21362Ile
NM_133432.3:c.44969A>T (TTN) NP_597676.3:p.Lys14990Ile
NM_133437.4:c.45170A>T (TTN) NP_597681.4:p.Lys15057Ile
NR_038271.1:n.596+2894T>A (TTN-AS1)
NR_038272.1:n.2044-8229T>A (TTN-AS1)
ENST00000342175.10:c.45170A>T (TTN) ENSP00000340554.6:p.Lys15057Ile
ENST00000342175.11:c.45170A>T (TTN) ENSP00000340554.6:p.Lys15057Ile
ENST00000342992.10:c.64085A>T (TTN) ENSP00000343764.6:p.Lys21362Ile
ENST00000342992.11:c.64085A>T (TTN) ENSP00000343764.6:p.Lys21362Ile
ENST00000359218.10:c.44969A>T (TTN) ENSP00000352154.5:p.Lys14990Ile
ENST00000359218.9:c.44969A>T (TTN) ENSP00000352154.5:p.Lys14990Ile
ENST00000460472.6:c.44594A>T (TTN) ENSP00000434586.1:p.Lys14865Ile
ENST00000591111.5:c.66866A>T (TTN) ENSP00000465570.1:p.Lys22289Ile
ENST00000615779.4:c.66866A>T (TTN) ENSP00000483597.1:p.Lys22289Ile
XM_011511729.1:c.70886A>T (TTN) XP_011510031.1:p.Lys23629Ile
XM_011511730.1:c.44780A>T (TTN) XP_011510032.1:p.Lys14927Ile
XM_011511731.1:c.44639A>T (TTN) XP_011510033.1:p.Lys14880Ile
XM_017004819.1:c.70682A>T (TTN) XP_016860308.1:p.Lys23561Ile
XM_017004820.1:c.66080A>T (TTN) XP_016860309.1:p.Lys22027Ile
XM_017004821.1:c.66077A>T (TTN) XP_016860310.1:p.Lys22026Ile
XM_017004822.1:c.63119A>T (TTN) XP_016860311.1:p.Lys21040Ile
XM_017004823.1:c.44735A>T (TTN) XP_016860312.1:p.Lys14912Ile
XM_024453094.1:c.66230A>T (TTN) XP_024308862.1:p.Lys22077Ile
XM_024453095.1:c.66227A>T (TTN) XP_024308863.1:p.Lys22076Ile
XM_024453096.1:c.65660A>T (TTN) XP_024308864.1:p.Lys21887Ile
XM_024453097.1:c.63002A>T (TTN) XP_024308865.1:p.Lys21001Ile
XM_024453098.1:c.62921A>T (TTN) XP_024308866.1:p.Lys20974Ile
XM_024453099.1:c.44684A>T (TTN) XP_024308867.1:p.Lys14895Ile
XM_024453100.1:c.34538A>T (TTN) XP_024308868.1:p.Lys11513Ile