Canonical Allele Identifier: CA349600896

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567288T>A , CM000664.2:g.178567288T>A GRCh38
NC_000002.11:g.179432015T>A , CM000664.1:g.179432015T>A GRCh37
NC_000002.10:g.179140261T>A NCBI36
NG_011618.3:g.268515A>T , LRG_391:g.268515A>T
NG_051363.1:g.49462T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71140A>T (TTN) ENSP00000343764.6:p.Lys23714Ter
ENST00000342175.11:c.52225A>T (TTN) ENSP00000340554.6:p.Lys17409Ter
ENST00000359218.10:c.52024A>T (TTN) ENSP00000352154.5:p.Lys17342Ter
ENST00000342175.10:c.52225A>T (TTN) ENSP00000340554.6:p.Lys17409Ter
ENST00000342992.10:c.71140A>T (TTN) ENSP00000343764.6:p.Lys23714Ter
ENST00000359218.9:c.52024A>T (TTN) ENSP00000352154.5:p.Lys17342Ter
ENST00000460472.6:c.51649A>T (TTN) ENSP00000434586.1:p.Lys17217Ter
ENST00000589042.5:c.78844A>T (TTN) MANE Select ENSP00000467141.1:p.Lys26282Ter
ENST00000591111.5:c.73921A>T (TTN) ENSP00000465570.1:p.Lys24641Ter
ENST00000615779.4:c.73921A>T (TTN) ENSP00000483597.1:p.Lys24641Ter
NM_001256850.1:c.73921A>T (TTN) NP_001243779.1:p.Lys24641Ter
NM_001267550.2:c.78844A>T (TTN) MANE Select NP_001254479.2:p.Lys26282Ter
NM_003319.4:c.51649A>T (TTN) NP_003310.4:p.Lys17217Ter
NM_133378.4:c.71140A>T (TTN) NP_596869.4:p.Lys23714Ter
NM_133432.3:c.52024A>T (TTN) NP_597676.3:p.Lys17342Ter
NM_133437.4:c.52225A>T (TTN) NP_597681.4:p.Lys17409Ter
NR_038271.1:n.447-4012T>A (TTN-AS1)
NR_038272.1:n.2044-15284T>A (TTN-AS1)
XM_011511729.1:c.77941A>T (TTN) XP_011510031.1:p.Lys25981Ter
XM_011511730.1:c.51835A>T (TTN) XP_011510032.1:p.Lys17279Ter
XM_011511731.1:c.51694A>T (TTN) XP_011510033.1:p.Lys17232Ter
XM_017004819.1:c.77737A>T (TTN) XP_016860308.1:p.Lys25913Ter
XM_017004820.1:c.73135A>T (TTN) XP_016860309.1:p.Lys24379Ter
XM_017004821.1:c.73132A>T (TTN) XP_016860310.1:p.Lys24378Ter
XM_017004822.1:c.70174A>T (TTN) XP_016860311.1:p.Lys23392Ter
XM_017004823.1:c.51790A>T (TTN) XP_016860312.1:p.Lys17264Ter
XM_024453094.1:c.73285A>T (TTN) XP_024308862.1:p.Lys24429Ter
XM_024453095.1:c.73282A>T (TTN) XP_024308863.1:p.Lys24428Ter
XM_024453096.1:c.72715A>T (TTN) XP_024308864.1:p.Lys24239Ter
XM_024453097.1:c.70057A>T (TTN) XP_024308865.1:p.Lys23353Ter
XM_024453098.1:c.69976A>T (TTN) XP_024308866.1:p.Lys23326Ter
XM_024453099.1:c.51739A>T (TTN) XP_024308867.1:p.Lys17247Ter
XM_024453100.1:c.41593A>T (TTN) XP_024308868.1:p.Lys13865Ter