Canonical Allele Identifier: CA349423337

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579569T>G , CM000664.2:g.178579569T>G GRCh38
NC_000002.11:g.179444296T>G , CM000664.1:g.179444296T>G GRCh37
NC_000002.10:g.179152542T>G NCBI36
NG_011618.3:g.256234A>C , LRG_391:g.256234A>C
NG_051363.1:g.61743T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59924A>C (TTN) ENSP00000343764.6:p.Asp19975Ala
ENST00000342175.11:c.41009A>C (TTN) ENSP00000340554.6:p.Asp13670Ala
ENST00000359218.10:c.40808A>C (TTN) ENSP00000352154.5:p.Asp13603Ala
ENST00000342175.10:c.41009A>C (TTN) ENSP00000340554.6:p.Asp13670Ala
ENST00000342992.10:c.59924A>C (TTN) ENSP00000343764.6:p.Asp19975Ala
ENST00000359218.9:c.40808A>C (TTN) ENSP00000352154.5:p.Asp13603Ala
ENST00000460472.6:c.40433A>C (TTN) ENSP00000434586.1:p.Asp13478Ala
ENST00000589042.5:c.67628A>C (TTN) MANE Select ENSP00000467141.1:p.Asp22543Ala
ENST00000591111.5:c.62705A>C (TTN) ENSP00000465570.1:p.Asp20902Ala
ENST00000615779.4:c.62705A>C (TTN) ENSP00000483597.1:p.Asp20902Ala
NM_001256850.1:c.62705A>C (TTN) NP_001243779.1:p.Asp20902Ala
NM_001267550.2:c.67628A>C (TTN) MANE Select NP_001254479.2:p.Asp22543Ala
NM_003319.4:c.40433A>C (TTN) NP_003310.4:p.Asp13478Ala
NM_133378.4:c.59924A>C (TTN) NP_596869.4:p.Asp19975Ala
NM_133432.3:c.40808A>C (TTN) NP_597676.3:p.Asp13603Ala
NM_133437.4:c.41009A>C (TTN) NP_597681.4:p.Asp13670Ala
NR_038271.1:n.596+8120T>G (TTN-AS1)
NR_038272.1:n.2044-3003T>G (TTN-AS1)
XM_011511729.1:c.66725A>C (TTN) XP_011510031.1:p.Asp22242Ala
XM_011511730.1:c.40619A>C (TTN) XP_011510032.1:p.Asp13540Ala
XM_011511731.1:c.40478A>C (TTN) XP_011510033.1:p.Asp13493Ala
XM_017004819.1:c.66521A>C (TTN) XP_016860308.1:p.Asp22174Ala
XM_017004820.1:c.61919A>C (TTN) XP_016860309.1:p.Asp20640Ala
XM_017004821.1:c.61916A>C (TTN) XP_016860310.1:p.Asp20639Ala
XM_017004822.1:c.58958A>C (TTN) XP_016860311.1:p.Asp19653Ala
XM_017004823.1:c.40574A>C (TTN) XP_016860312.1:p.Asp13525Ala
XM_024453094.1:c.62069A>C (TTN) XP_024308862.1:p.Asp20690Ala
XM_024453095.1:c.62066A>C (TTN) XP_024308863.1:p.Asp20689Ala
XM_024453096.1:c.61499A>C (TTN) XP_024308864.1:p.Asp20500Ala
XM_024453097.1:c.58841A>C (TTN) XP_024308865.1:p.Asp19614Ala
XM_024453098.1:c.58760A>C (TTN) XP_024308866.1:p.Asp19587Ala
XM_024453099.1:c.40523A>C (TTN) XP_024308867.1:p.Asp13508Ala
XM_024453100.1:c.30377A>C (TTN) XP_024308868.1:p.Asp10126Ala