Canonical Allele Identifier: CA349499836

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593185T>A , CM000664.2:g.178593185T>A GRCh38
NC_000002.11:g.179457912T>A , CM000664.1:g.179457912T>A GRCh37
NC_000002.10:g.179166158T>A NCBI36
NG_011618.3:g.242618A>T , LRG_391:g.242618A>T
NG_051363.1:g.75359T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51319A>T (TTN) ENSP00000343764.6:p.Lys17107Ter
ENST00000342175.11:c.32404A>T (TTN) ENSP00000340554.6:p.Lys10802Ter
ENST00000359218.10:c.32203A>T (TTN) ENSP00000352154.5:p.Lys10735Ter
ENST00000342175.10:c.32404A>T (TTN) ENSP00000340554.6:p.Lys10802Ter
ENST00000342992.10:c.51319A>T (TTN) ENSP00000343764.6:p.Lys17107Ter
ENST00000359218.9:c.32203A>T (TTN) ENSP00000352154.5:p.Lys10735Ter
ENST00000460472.6:c.31828A>T (TTN) ENSP00000434586.1:p.Lys10610Ter
ENST00000589042.5:c.59023A>T (TTN) MANE Select ENSP00000467141.1:p.Lys19675Ter
ENST00000591111.5:c.54100A>T (TTN) ENSP00000465570.1:p.Lys18034Ter
ENST00000615779.4:c.54100A>T (TTN) ENSP00000483597.1:p.Lys18034Ter
NM_001256850.1:c.54100A>T (TTN) NP_001243779.1:p.Lys18034Ter
NM_001267550.2:c.59023A>T (TTN) MANE Select NP_001254479.2:p.Lys19675Ter
NM_003319.4:c.31828A>T (TTN) NP_003310.4:p.Lys10610Ter
NM_133378.4:c.51319A>T (TTN) NP_596869.4:p.Lys17107Ter
NM_133432.3:c.32203A>T (TTN) NP_597676.3:p.Lys10735Ter
NM_133437.4:c.32404A>T (TTN) NP_597681.4:p.Lys10802Ter
NR_038271.1:n.597-4411T>A (TTN-AS1)
NR_038272.1:n.3364+1871T>A (TTN-AS1)
XM_011511729.1:c.58120A>T (TTN) XP_011510031.1:p.Lys19374Ter
XM_011511730.1:c.32014A>T (TTN) XP_011510032.1:p.Lys10672Ter
XM_011511731.1:c.31873A>T (TTN) XP_011510033.1:p.Lys10625Ter
XM_017004819.1:c.57916A>T (TTN) XP_016860308.1:p.Lys19306Ter
XM_017004820.1:c.53314A>T (TTN) XP_016860309.1:p.Lys17772Ter
XM_017004821.1:c.53311A>T (TTN) XP_016860310.1:p.Lys17771Ter
XM_017004822.1:c.50353A>T (TTN) XP_016860311.1:p.Lys16785Ter
XM_017004823.1:c.31969A>T (TTN) XP_016860312.1:p.Lys10657Ter
XM_024453094.1:c.53464A>T (TTN) XP_024308862.1:p.Lys17822Ter
XM_024453095.1:c.53461A>T (TTN) XP_024308863.1:p.Lys17821Ter
XM_024453096.1:c.52894A>T (TTN) XP_024308864.1:p.Lys17632Ter
XM_024453097.1:c.50236A>T (TTN) XP_024308865.1:p.Lys16746Ter
XM_024453098.1:c.50155A>T (TTN) XP_024308866.1:p.Lys16719Ter
XM_024453099.1:c.31918A>T (TTN) XP_024308867.1:p.Lys10640Ter
XM_024453100.1:c.21772A>T (TTN) XP_024308868.1:p.Lys7258Ter