Canonical Allele Identifier: CA349564224

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562307T>C , CM000664.2:g.178562307T>C GRCh38
NC_000002.11:g.179427034T>C , CM000664.1:g.179427034T>C GRCh37
NC_000002.10:g.179135280T>C NCBI36
NG_011618.3:g.273496A>G , LRG_391:g.273496A>G
NG_051363.1:g.44481T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76121A>G (TTN) ENSP00000343764.6:p.Lys25374Arg
ENST00000342175.11:c.57206A>G (TTN) ENSP00000340554.6:p.Lys19069Arg
ENST00000359218.10:c.57005A>G (TTN) ENSP00000352154.5:p.Lys19002Arg
ENST00000342175.10:c.57206A>G (TTN) ENSP00000340554.6:p.Lys19069Arg
ENST00000342992.10:c.76121A>G (TTN) ENSP00000343764.6:p.Lys25374Arg
ENST00000359218.9:c.57005A>G (TTN) ENSP00000352154.5:p.Lys19002Arg
ENST00000460472.6:c.56630A>G (TTN) ENSP00000434586.1:p.Lys18877Arg
ENST00000589042.5:c.83825A>G (TTN) MANE Select ENSP00000467141.1:p.Lys27942Arg
ENST00000591111.5:c.78902A>G (TTN) ENSP00000465570.1:p.Lys26301Arg
ENST00000615779.4:c.78902A>G (TTN) ENSP00000483597.1:p.Lys26301Arg
NM_001256850.1:c.78902A>G (TTN) NP_001243779.1:p.Lys26301Arg
NM_001267550.2:c.83825A>G (TTN) MANE Select NP_001254479.2:p.Lys27942Arg
NM_003319.4:c.56630A>G (TTN) NP_003310.4:p.Lys18877Arg
NM_133378.4:c.76121A>G (TTN) NP_596869.4:p.Lys25374Arg
NM_133432.3:c.57005A>G (TTN) NP_597676.3:p.Lys19002Arg
NM_133437.4:c.57206A>G (TTN) NP_597681.4:p.Lys19069Arg
NR_038271.1:n.447-8993T>C (TTN-AS1)
NR_038272.1:n.2043+19946T>C (TTN-AS1)
XM_011511729.1:c.82922A>G (TTN) XP_011510031.1:p.Lys27641Arg
XM_011511730.1:c.56816A>G (TTN) XP_011510032.1:p.Lys18939Arg
XM_011511731.1:c.56675A>G (TTN) XP_011510033.1:p.Lys18892Arg
XM_017004819.1:c.82718A>G (TTN) XP_016860308.1:p.Lys27573Arg
XM_017004820.1:c.78116A>G (TTN) XP_016860309.1:p.Lys26039Arg
XM_017004821.1:c.78113A>G (TTN) XP_016860310.1:p.Lys26038Arg
XM_017004822.1:c.75155A>G (TTN) XP_016860311.1:p.Lys25052Arg
XM_017004823.1:c.56771A>G (TTN) XP_016860312.1:p.Lys18924Arg
XM_024453094.1:c.78266A>G (TTN) XP_024308862.1:p.Lys26089Arg
XM_024453095.1:c.78263A>G (TTN) XP_024308863.1:p.Lys26088Arg
XM_024453096.1:c.77696A>G (TTN) XP_024308864.1:p.Lys25899Arg
XM_024453097.1:c.75038A>G (TTN) XP_024308865.1:p.Lys25013Arg
XM_024453098.1:c.74957A>G (TTN) XP_024308866.1:p.Lys24986Arg
XM_024453099.1:c.56720A>G (TTN) XP_024308867.1:p.Lys18907Arg
XM_024453100.1:c.46574A>G (TTN) XP_024308868.1:p.Lys15525Arg