Canonical Allele Identifier: CA349456344

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544342C>G , CM000664.2:g.178544342C>G GRCh38
NC_000002.11:g.179409069C>G , CM000664.1:g.179409069C>G GRCh37
NC_000002.10:g.179117315C>G NCBI36
NG_011618.3:g.291461G>C , LRG_391:g.291461G>C
NG_051363.1:g.26516C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88183G>C (TTN) ENSP00000343764.6:p.Ala29395Pro
ENST00000342175.11:c.69268G>C (TTN) ENSP00000340554.6:p.Ala23090Pro
ENST00000359218.10:c.69067G>C (TTN) ENSP00000352154.5:p.Ala23023Pro
ENST00000342175.10:c.69268G>C (TTN) ENSP00000340554.6:p.Ala23090Pro
ENST00000342992.10:c.88183G>C (TTN) ENSP00000343764.6:p.Ala29395Pro
ENST00000359218.9:c.69067G>C (TTN) ENSP00000352154.5:p.Ala23023Pro
ENST00000460472.6:c.68692G>C (TTN) ENSP00000434586.1:p.Ala22898Pro
ENST00000589042.5:c.95887G>C (TTN) MANE Select ENSP00000467141.1:p.Ala31963Pro
ENST00000591111.5:c.90964G>C (TTN) ENSP00000465570.1:p.Ala30322Pro
ENST00000615779.4:c.90964G>C (TTN) ENSP00000483597.1:p.Ala30322Pro
NM_001256850.1:c.90964G>C (TTN) NP_001243779.1:p.Ala30322Pro
NM_001267550.2:c.95887G>C (TTN) MANE Select NP_001254479.2:p.Ala31963Pro
NM_003319.4:c.68692G>C (TTN) NP_003310.4:p.Ala22898Pro
NM_133378.4:c.88183G>C (TTN) NP_596869.4:p.Ala29395Pro
NM_133432.3:c.69067G>C (TTN) NP_597676.3:p.Ala23023Pro
NM_133437.4:c.69268G>C (TTN) NP_597681.4:p.Ala23090Pro
NR_038271.1:n.446+20706C>G (TTN-AS1)
NR_038272.1:n.2043+1981C>G (TTN-AS1)
XM_011511729.1:c.94984G>C (TTN) XP_011510031.1:p.Ala31662Pro
XM_011511730.1:c.68878G>C (TTN) XP_011510032.1:p.Ala22960Pro
XM_011511731.1:c.68737G>C (TTN) XP_011510033.1:p.Ala22913Pro
XM_017004819.1:c.94780G>C (TTN) XP_016860308.1:p.Ala31594Pro
XM_017004820.1:c.90178G>C (TTN) XP_016860309.1:p.Ala30060Pro
XM_017004821.1:c.90175G>C (TTN) XP_016860310.1:p.Ala30059Pro
XM_017004822.1:c.87217G>C (TTN) XP_016860311.1:p.Ala29073Pro
XM_017004823.1:c.68833G>C (TTN) XP_016860312.1:p.Ala22945Pro
XM_024453094.1:c.90328G>C (TTN) XP_024308862.1:p.Ala30110Pro
XM_024453095.1:c.90325G>C (TTN) XP_024308863.1:p.Ala30109Pro
XM_024453096.1:c.89758G>C (TTN) XP_024308864.1:p.Ala29920Pro
XM_024453097.1:c.87100G>C (TTN) XP_024308865.1:p.Ala29034Pro
XM_024453098.1:c.87019G>C (TTN) XP_024308866.1:p.Ala29007Pro
XM_024453099.1:c.68782G>C (TTN) XP_024308867.1:p.Ala22928Pro
XM_024453100.1:c.58636G>C (TTN) XP_024308868.1:p.Ala19546Pro