Canonical Allele Identifier: CA349465237
Community Standard Title: NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589423T>A , CM000664.2:g.178589423T>A GRCh38
NC_000002.11:g.179454150T>A , CM000664.1:g.179454150T>A GRCh37
NC_000002.10:g.179162396T>A NCBI36
NG_011618.3:g.246380A>T , LRG_391:g.246380A>T
NG_051363.1:g.71597T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62302A>T (TTN) MANE Select NP_001254479.2:p.Lys20768Ter
ENST00000589042.5:c.62302A>T (TTN) MANE Select ENSP00000467141.1:p.Lys20768Ter
NM_001256850.1:c.57379A>T (TTN) NP_001243779.1:p.Lys19127Ter
NM_003319.4:c.35107A>T (TTN) NP_003310.4:p.Lys11703Ter
NM_133378.4:c.54598A>T (TTN) NP_596869.4:p.Lys18200Ter
NM_133432.3:c.35482A>T (TTN) NP_597676.3:p.Lys11828Ter
NM_133437.4:c.35683A>T (TTN) NP_597681.4:p.Lys11895Ter
NR_038271.1:n.597-8173T>A (TTN-AS1)
NR_038272.1:n.3189-1716T>A (TTN-AS1)
ENST00000342175.10:c.35683A>T (TTN) ENSP00000340554.6:p.Lys11895Ter
ENST00000342175.11:c.35683A>T (TTN) ENSP00000340554.6:p.Lys11895Ter
ENST00000342992.10:c.54598A>T (TTN) ENSP00000343764.6:p.Lys18200Ter
ENST00000342992.11:c.54598A>T (TTN) ENSP00000343764.6:p.Lys18200Ter
ENST00000359218.10:c.35482A>T (TTN) ENSP00000352154.5:p.Lys11828Ter
ENST00000359218.9:c.35482A>T (TTN) ENSP00000352154.5:p.Lys11828Ter
ENST00000460472.6:c.35107A>T (TTN) ENSP00000434586.1:p.Lys11703Ter
ENST00000591111.5:c.57379A>T (TTN) ENSP00000465570.1:p.Lys19127Ter
ENST00000615779.4:c.57379A>T (TTN) ENSP00000483597.1:p.Lys19127Ter
XM_011511729.1:c.61399A>T (TTN) XP_011510031.1:p.Lys20467Ter
XM_011511730.1:c.35293A>T (TTN) XP_011510032.1:p.Lys11765Ter
XM_011511731.1:c.35152A>T (TTN) XP_011510033.1:p.Lys11718Ter
XM_017004819.1:c.61195A>T (TTN) XP_016860308.1:p.Lys20399Ter
XM_017004820.1:c.56593A>T (TTN) XP_016860309.1:p.Lys18865Ter
XM_017004821.1:c.56590A>T (TTN) XP_016860310.1:p.Lys18864Ter
XM_017004822.1:c.53632A>T (TTN) XP_016860311.1:p.Lys17878Ter
XM_017004823.1:c.35248A>T (TTN) XP_016860312.1:p.Lys11750Ter
XM_024453094.1:c.56743A>T (TTN) XP_024308862.1:p.Lys18915Ter
XM_024453095.1:c.56740A>T (TTN) XP_024308863.1:p.Lys18914Ter
XM_024453096.1:c.56173A>T (TTN) XP_024308864.1:p.Lys18725Ter
XM_024453097.1:c.53515A>T (TTN) XP_024308865.1:p.Lys17839Ter
XM_024453098.1:c.53434A>T (TTN) XP_024308866.1:p.Lys17812Ter
XM_024453099.1:c.35197A>T (TTN) XP_024308867.1:p.Lys11733Ter
XM_024453100.1:c.25051A>T (TTN) XP_024308868.1:p.Lys8351Ter