Canonical Allele Identifier: CA349618628

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618195T>A , CM000664.2:g.178618195T>A GRCh38
NC_000002.11:g.179482922T>A , CM000664.1:g.179482922T>A GRCh37
NC_000002.10:g.179191167T>A NCBI36
NG_011618.3:g.217608A>T , LRG_391:g.217608A>T
NG_051363.1:g.100369T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39559A>T (TTN) ENSP00000343764.6:p.Lys13187Ter
ENST00000342175.11:c.20644A>T (TTN) ENSP00000340554.6:p.Lys6882Ter
ENST00000359218.10:c.20443A>T (TTN) ENSP00000352154.5:p.Lys6815Ter
ENST00000342175.10:c.20644A>T (TTN) ENSP00000340554.6:p.Lys6882Ter
ENST00000342992.10:c.39559A>T (TTN) ENSP00000343764.6:p.Lys13187Ter
ENST00000359218.9:c.20443A>T (TTN) ENSP00000352154.5:p.Lys6815Ter
ENST00000460472.6:c.20068A>T (TTN) ENSP00000434586.1:p.Lys6690Ter
ENST00000589042.5:c.47263A>T (TTN) MANE Select ENSP00000467141.1:p.Lys15755Ter
ENST00000591111.5:c.42340A>T (TTN) ENSP00000465570.1:p.Lys14114Ter
ENST00000615779.4:c.42340A>T (TTN) ENSP00000483597.1:p.Lys14114Ter
NM_001256850.1:c.42340A>T (TTN) NP_001243779.1:p.Lys14114Ter
NM_001267550.2:c.47263A>T (TTN) MANE Select NP_001254479.2:p.Lys15755Ter
NM_003319.4:c.20068A>T (TTN) NP_003310.4:p.Lys6690Ter
NM_133378.4:c.39559A>T (TTN) NP_596869.4:p.Lys13187Ter
NM_133432.3:c.20443A>T (TTN) NP_597676.3:p.Lys6815Ter
NM_133437.4:c.20644A>T (TTN) NP_597681.4:p.Lys6882Ter
NR_038271.1:n.1605-1558T>A (TTN-AS1)
XM_011511729.1:c.46360A>T (TTN) XP_011510031.1:p.Lys15454Ter
XM_011511730.1:c.20254A>T (TTN) XP_011510032.1:p.Lys6752Ter
XM_011511731.1:c.20113A>T (TTN) XP_011510033.1:p.Lys6705Ter
XM_017004819.1:c.46156A>T (TTN) XP_016860308.1:p.Lys15386Ter
XM_017004820.1:c.41554A>T (TTN) XP_016860309.1:p.Lys13852Ter
XM_017004821.1:c.41551A>T (TTN) XP_016860310.1:p.Lys13851Ter
XM_017004822.1:c.38593A>T (TTN) XP_016860311.1:p.Lys12865Ter
XM_017004823.1:c.20209A>T (TTN) XP_016860312.1:p.Lys6737Ter
XM_024453094.1:c.41704A>T (TTN) XP_024308862.1:p.Lys13902Ter
XM_024453095.1:c.41701A>T (TTN) XP_024308863.1:p.Lys13901Ter
XM_024453096.1:c.41134A>T (TTN) XP_024308864.1:p.Lys13712Ter
XM_024453097.1:c.38476A>T (TTN) XP_024308865.1:p.Lys12826Ter
XM_024453098.1:c.38395A>T (TTN) XP_024308866.1:p.Lys12799Ter
XM_024453099.1:c.20158A>T (TTN) XP_024308867.1:p.Lys6720Ter
XM_024453100.1:c.10012A>T (TTN) XP_024308868.1:p.Lys3338Ter