Canonical Allele Identifier: CA349457352

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544422T>G , CM000664.2:g.178544422T>G GRCh38
NC_000002.11:g.179409149T>G , CM000664.1:g.179409149T>G GRCh37
NC_000002.10:g.179117395T>G NCBI36
NG_011618.3:g.291381A>C , LRG_391:g.291381A>C
NG_051363.1:g.26596T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88103A>C (TTN) ENSP00000343764.6:p.Asp29368Ala
ENST00000342175.11:c.69188A>C (TTN) ENSP00000340554.6:p.Asp23063Ala
ENST00000359218.10:c.68987A>C (TTN) ENSP00000352154.5:p.Asp22996Ala
ENST00000342175.10:c.69188A>C (TTN) ENSP00000340554.6:p.Asp23063Ala
ENST00000342992.10:c.88103A>C (TTN) ENSP00000343764.6:p.Asp29368Ala
ENST00000359218.9:c.68987A>C (TTN) ENSP00000352154.5:p.Asp22996Ala
ENST00000460472.6:c.68612A>C (TTN) ENSP00000434586.1:p.Asp22871Ala
ENST00000589042.5:c.95807A>C (TTN) MANE Select ENSP00000467141.1:p.Asp31936Ala
ENST00000591111.5:c.90884A>C (TTN) ENSP00000465570.1:p.Asp30295Ala
ENST00000615779.4:c.90884A>C (TTN) ENSP00000483597.1:p.Asp30295Ala
NM_001256850.1:c.90884A>C (TTN) NP_001243779.1:p.Asp30295Ala
NM_001267550.2:c.95807A>C (TTN) MANE Select NP_001254479.2:p.Asp31936Ala
NM_003319.4:c.68612A>C (TTN) NP_003310.4:p.Asp22871Ala
NM_133378.4:c.88103A>C (TTN) NP_596869.4:p.Asp29368Ala
NM_133432.3:c.68987A>C (TTN) NP_597676.3:p.Asp22996Ala
NM_133437.4:c.69188A>C (TTN) NP_597681.4:p.Asp23063Ala
NR_038271.1:n.446+20786T>G (TTN-AS1)
NR_038272.1:n.2043+2061T>G (TTN-AS1)
XM_011511729.1:c.94904A>C (TTN) XP_011510031.1:p.Asp31635Ala
XM_011511730.1:c.68798A>C (TTN) XP_011510032.1:p.Asp22933Ala
XM_011511731.1:c.68657A>C (TTN) XP_011510033.1:p.Asp22886Ala
XM_017004819.1:c.94700A>C (TTN) XP_016860308.1:p.Asp31567Ala
XM_017004820.1:c.90098A>C (TTN) XP_016860309.1:p.Asp30033Ala
XM_017004821.1:c.90095A>C (TTN) XP_016860310.1:p.Asp30032Ala
XM_017004822.1:c.87137A>C (TTN) XP_016860311.1:p.Asp29046Ala
XM_017004823.1:c.68753A>C (TTN) XP_016860312.1:p.Asp22918Ala
XM_024453094.1:c.90248A>C (TTN) XP_024308862.1:p.Asp30083Ala
XM_024453095.1:c.90245A>C (TTN) XP_024308863.1:p.Asp30082Ala
XM_024453096.1:c.89678A>C (TTN) XP_024308864.1:p.Asp29893Ala
XM_024453097.1:c.87020A>C (TTN) XP_024308865.1:p.Asp29007Ala
XM_024453098.1:c.86939A>C (TTN) XP_024308866.1:p.Asp28980Ala
XM_024453099.1:c.68702A>C (TTN) XP_024308867.1:p.Asp22901Ala
XM_024453100.1:c.58556A>C (TTN) XP_024308868.1:p.Asp19519Ala