Canonical Allele Identifier: CA349510690

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552454A>C , CM000664.2:g.178552454A>C GRCh38
NC_000002.11:g.179417181A>C , CM000664.1:g.179417181A>C GRCh37
NC_000002.10:g.179125427A>C NCBI36
NG_011618.3:g.283349T>G , LRG_391:g.283349T>G
NG_051363.1:g.34628A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82742T>G (TTN) ENSP00000343764.6:p.Val27581Gly
ENST00000342175.11:c.63827T>G (TTN) ENSP00000340554.6:p.Val21276Gly
ENST00000359218.10:c.63626T>G (TTN) ENSP00000352154.5:p.Val21209Gly
ENST00000342175.10:c.63827T>G (TTN) ENSP00000340554.6:p.Val21276Gly
ENST00000342992.10:c.82742T>G (TTN) ENSP00000343764.6:p.Val27581Gly
ENST00000359218.9:c.63626T>G (TTN) ENSP00000352154.5:p.Val21209Gly
ENST00000460472.6:c.63251T>G (TTN) ENSP00000434586.1:p.Val21084Gly
ENST00000589042.5:c.90446T>G (TTN) MANE Select ENSP00000467141.1:p.Val30149Gly
ENST00000591111.5:c.85523T>G (TTN) ENSP00000465570.1:p.Val28508Gly
ENST00000615779.4:c.85523T>G (TTN) ENSP00000483597.1:p.Val28508Gly
NM_001256850.1:c.85523T>G (TTN) NP_001243779.1:p.Val28508Gly
NM_001267550.2:c.90446T>G (TTN) MANE Select NP_001254479.2:p.Val30149Gly
NM_003319.4:c.63251T>G (TTN) NP_003310.4:p.Val21084Gly
NM_133378.4:c.82742T>G (TTN) NP_596869.4:p.Val27581Gly
NM_133432.3:c.63626T>G (TTN) NP_597676.3:p.Val21209Gly
NM_133437.4:c.63827T>G (TTN) NP_597681.4:p.Val21276Gly
NR_038271.1:n.447-18846A>C (TTN-AS1)
NR_038272.1:n.2043+10093A>C (TTN-AS1)
XM_011511729.1:c.89543T>G (TTN) XP_011510031.1:p.Val29848Gly
XM_011511730.1:c.63437T>G (TTN) XP_011510032.1:p.Val21146Gly
XM_011511731.1:c.63296T>G (TTN) XP_011510033.1:p.Val21099Gly
XM_017004819.1:c.89339T>G (TTN) XP_016860308.1:p.Val29780Gly
XM_017004820.1:c.84737T>G (TTN) XP_016860309.1:p.Val28246Gly
XM_017004821.1:c.84734T>G (TTN) XP_016860310.1:p.Val28245Gly
XM_017004822.1:c.81776T>G (TTN) XP_016860311.1:p.Val27259Gly
XM_017004823.1:c.63392T>G (TTN) XP_016860312.1:p.Val21131Gly
XM_024453094.1:c.84887T>G (TTN) XP_024308862.1:p.Val28296Gly
XM_024453095.1:c.84884T>G (TTN) XP_024308863.1:p.Val28295Gly
XM_024453096.1:c.84317T>G (TTN) XP_024308864.1:p.Val28106Gly
XM_024453097.1:c.81659T>G (TTN) XP_024308865.1:p.Val27220Gly
XM_024453098.1:c.81578T>G (TTN) XP_024308866.1:p.Val27193Gly
XM_024453099.1:c.63341T>G (TTN) XP_024308867.1:p.Val21114Gly
XM_024453100.1:c.53195T>G (TTN) XP_024308868.1:p.Val17732Gly