Canonical Allele Identifier: CA349610717

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568740G>C , CM000664.2:g.178568740G>C GRCh38
NC_000002.11:g.179433467G>C , CM000664.1:g.179433467G>C GRCh37
NC_000002.10:g.179141713G>C NCBI36
NG_011618.3:g.267063C>G , LRG_391:g.267063C>G
NG_051363.1:g.50914G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69688C>G (TTN) ENSP00000343764.6:p.Pro23230Ala
ENST00000342175.11:c.50773C>G (TTN) ENSP00000340554.6:p.Pro16925Ala
ENST00000359218.10:c.50572C>G (TTN) ENSP00000352154.5:p.Pro16858Ala
ENST00000342175.10:c.50773C>G (TTN) ENSP00000340554.6:p.Pro16925Ala
ENST00000342992.10:c.69688C>G (TTN) ENSP00000343764.6:p.Pro23230Ala
ENST00000359218.9:c.50572C>G (TTN) ENSP00000352154.5:p.Pro16858Ala
ENST00000460472.6:c.50197C>G (TTN) ENSP00000434586.1:p.Pro16733Ala
ENST00000589042.5:c.77392C>G (TTN) MANE Select ENSP00000467141.1:p.Pro25798Ala
ENST00000591111.5:c.72469C>G (TTN) ENSP00000465570.1:p.Pro24157Ala
ENST00000615779.4:c.72469C>G (TTN) ENSP00000483597.1:p.Pro24157Ala
NM_001256850.1:c.72469C>G (TTN) NP_001243779.1:p.Pro24157Ala
NM_001267550.2:c.77392C>G (TTN) MANE Select NP_001254479.2:p.Pro25798Ala
NM_003319.4:c.50197C>G (TTN) NP_003310.4:p.Pro16733Ala
NM_133378.4:c.69688C>G (TTN) NP_596869.4:p.Pro23230Ala
NM_133432.3:c.50572C>G (TTN) NP_597676.3:p.Pro16858Ala
NM_133437.4:c.50773C>G (TTN) NP_597681.4:p.Pro16925Ala
NR_038271.1:n.447-2560G>C (TTN-AS1)
NR_038272.1:n.2044-13832G>C (TTN-AS1)
XM_011511729.1:c.76489C>G (TTN) XP_011510031.1:p.Pro25497Ala
XM_011511730.1:c.50383C>G (TTN) XP_011510032.1:p.Pro16795Ala
XM_011511731.1:c.50242C>G (TTN) XP_011510033.1:p.Pro16748Ala
XM_017004819.1:c.76285C>G (TTN) XP_016860308.1:p.Pro25429Ala
XM_017004820.1:c.71683C>G (TTN) XP_016860309.1:p.Pro23895Ala
XM_017004821.1:c.71680C>G (TTN) XP_016860310.1:p.Pro23894Ala
XM_017004822.1:c.68722C>G (TTN) XP_016860311.1:p.Pro22908Ala
XM_017004823.1:c.50338C>G (TTN) XP_016860312.1:p.Pro16780Ala
XM_024453094.1:c.71833C>G (TTN) XP_024308862.1:p.Pro23945Ala
XM_024453095.1:c.71830C>G (TTN) XP_024308863.1:p.Pro23944Ala
XM_024453096.1:c.71263C>G (TTN) XP_024308864.1:p.Pro23755Ala
XM_024453097.1:c.68605C>G (TTN) XP_024308865.1:p.Pro22869Ala
XM_024453098.1:c.68524C>G (TTN) XP_024308866.1:p.Pro22842Ala
XM_024453099.1:c.50287C>G (TTN) XP_024308867.1:p.Pro16763Ala
XM_024453100.1:c.40141C>G (TTN) XP_024308868.1:p.Pro13381Ala