Canonical Allele Identifier: CA349535021

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557704C>G , CM000664.2:g.178557704C>G GRCh38
NC_000002.11:g.179422431C>G , CM000664.1:g.179422431C>G GRCh37
NC_000002.10:g.179130677C>G NCBI36
NG_011618.3:g.278099G>C , LRG_391:g.278099G>C
NG_051363.1:g.39878C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79946G>C (TTN) ENSP00000343764.6:p.Arg26649Pro
ENST00000342175.11:c.61031G>C (TTN) ENSP00000340554.6:p.Arg20344Pro
ENST00000359218.10:c.60830G>C (TTN) ENSP00000352154.5:p.Arg20277Pro
ENST00000342175.10:c.61031G>C (TTN) ENSP00000340554.6:p.Arg20344Pro
ENST00000342992.10:c.79946G>C (TTN) ENSP00000343764.6:p.Arg26649Pro
ENST00000359218.9:c.60830G>C (TTN) ENSP00000352154.5:p.Arg20277Pro
ENST00000460472.6:c.60455G>C (TTN) ENSP00000434586.1:p.Arg20152Pro
ENST00000589042.5:c.87650G>C (TTN) MANE Select ENSP00000467141.1:p.Arg29217Pro
ENST00000591111.5:c.82727G>C (TTN) ENSP00000465570.1:p.Arg27576Pro
ENST00000615779.4:c.82727G>C (TTN) ENSP00000483597.1:p.Arg27576Pro
NM_001256850.1:c.82727G>C (TTN) NP_001243779.1:p.Arg27576Pro
NM_001267550.2:c.87650G>C (TTN) MANE Select NP_001254479.2:p.Arg29217Pro
NM_003319.4:c.60455G>C (TTN) NP_003310.4:p.Arg20152Pro
NM_133378.4:c.79946G>C (TTN) NP_596869.4:p.Arg26649Pro
NM_133432.3:c.60830G>C (TTN) NP_597676.3:p.Arg20277Pro
NM_133437.4:c.61031G>C (TTN) NP_597681.4:p.Arg20344Pro
NR_038271.1:n.447-13596C>G (TTN-AS1)
NR_038272.1:n.2043+15343C>G (TTN-AS1)
XM_011511729.1:c.86747G>C (TTN) XP_011510031.1:p.Arg28916Pro
XM_011511730.1:c.60641G>C (TTN) XP_011510032.1:p.Arg20214Pro
XM_011511731.1:c.60500G>C (TTN) XP_011510033.1:p.Arg20167Pro
XM_017004819.1:c.86543G>C (TTN) XP_016860308.1:p.Arg28848Pro
XM_017004820.1:c.81941G>C (TTN) XP_016860309.1:p.Arg27314Pro
XM_017004821.1:c.81938G>C (TTN) XP_016860310.1:p.Arg27313Pro
XM_017004822.1:c.78980G>C (TTN) XP_016860311.1:p.Arg26327Pro
XM_017004823.1:c.60596G>C (TTN) XP_016860312.1:p.Arg20199Pro
XM_024453094.1:c.82091G>C (TTN) XP_024308862.1:p.Arg27364Pro
XM_024453095.1:c.82088G>C (TTN) XP_024308863.1:p.Arg27363Pro
XM_024453096.1:c.81521G>C (TTN) XP_024308864.1:p.Arg27174Pro
XM_024453097.1:c.78863G>C (TTN) XP_024308865.1:p.Arg26288Pro
XM_024453098.1:c.78782G>C (TTN) XP_024308866.1:p.Arg26261Pro
XM_024453099.1:c.60545G>C (TTN) XP_024308867.1:p.Arg20182Pro
XM_024453100.1:c.50399G>C (TTN) XP_024308868.1:p.Arg16800Pro