Canonical Allele Identifier: CA349454322

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544099C>G , CM000664.2:g.178544099C>G GRCh38
NC_000002.11:g.179408826C>G , CM000664.1:g.179408826C>G GRCh37
NC_000002.10:g.179117072C>G NCBI36
NG_011618.3:g.291704G>C , LRG_391:g.291704G>C
NG_051363.1:g.26273C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88341G>C (TTN) ENSP00000343764.6:p.Glu29447Asp
ENST00000342175.11:c.69426G>C (TTN) ENSP00000340554.6:p.Glu23142Asp
ENST00000359218.10:c.69225G>C (TTN) ENSP00000352154.5:p.Glu23075Asp
ENST00000342175.10:c.69426G>C (TTN) ENSP00000340554.6:p.Glu23142Asp
ENST00000342992.10:c.88341G>C (TTN) ENSP00000343764.6:p.Glu29447Asp
ENST00000359218.9:c.69225G>C (TTN) ENSP00000352154.5:p.Glu23075Asp
ENST00000460472.6:c.68850G>C (TTN) ENSP00000434586.1:p.Glu22950Asp
ENST00000589042.5:c.96045G>C (TTN) MANE Select ENSP00000467141.1:p.Glu32015Asp
ENST00000591111.5:c.91122G>C (TTN) ENSP00000465570.1:p.Glu30374Asp
ENST00000615779.4:c.91122G>C (TTN) ENSP00000483597.1:p.Glu30374Asp
NM_001256850.1:c.91122G>C (TTN) NP_001243779.1:p.Glu30374Asp
NM_001267550.2:c.96045G>C (TTN) MANE Select NP_001254479.2:p.Glu32015Asp
NM_003319.4:c.68850G>C (TTN) NP_003310.4:p.Glu22950Asp
NM_133378.4:c.88341G>C (TTN) NP_596869.4:p.Glu29447Asp
NM_133432.3:c.69225G>C (TTN) NP_597676.3:p.Glu23075Asp
NM_133437.4:c.69426G>C (TTN) NP_597681.4:p.Glu23142Asp
NR_038271.1:n.446+20463C>G (TTN-AS1)
NR_038272.1:n.2043+1738C>G (TTN-AS1)
XM_011511729.1:c.95142G>C (TTN) XP_011510031.1:p.Glu31714Asp
XM_011511730.1:c.69036G>C (TTN) XP_011510032.1:p.Glu23012Asp
XM_011511731.1:c.68895G>C (TTN) XP_011510033.1:p.Glu22965Asp
XM_017004819.1:c.94938G>C (TTN) XP_016860308.1:p.Glu31646Asp
XM_017004820.1:c.90336G>C (TTN) XP_016860309.1:p.Glu30112Asp
XM_017004821.1:c.90333G>C (TTN) XP_016860310.1:p.Glu30111Asp
XM_017004822.1:c.87375G>C (TTN) XP_016860311.1:p.Glu29125Asp
XM_017004823.1:c.68991G>C (TTN) XP_016860312.1:p.Glu22997Asp
XM_024453094.1:c.90486G>C (TTN) XP_024308862.1:p.Glu30162Asp
XM_024453095.1:c.90483G>C (TTN) XP_024308863.1:p.Glu30161Asp
XM_024453096.1:c.89916G>C (TTN) XP_024308864.1:p.Glu29972Asp
XM_024453097.1:c.87258G>C (TTN) XP_024308865.1:p.Glu29086Asp
XM_024453098.1:c.87177G>C (TTN) XP_024308866.1:p.Glu29059Asp
XM_024453099.1:c.68940G>C (TTN) XP_024308867.1:p.Glu22980Asp
XM_024453100.1:c.58794G>C (TTN) XP_024308868.1:p.Glu19598Asp