Canonical Allele Identifier: CA349450902

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543888C>A , CM000664.2:g.178543888C>A GRCh38
NC_000002.11:g.179408615C>A , CM000664.1:g.179408615C>A GRCh37
NC_000002.10:g.179116861C>A NCBI36
NG_011618.3:g.291915G>T , LRG_391:g.291915G>T
NG_051363.1:g.26062C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88552G>T (TTN) ENSP00000343764.6:p.Glu29518Ter
ENST00000342175.11:c.69637G>T (TTN) ENSP00000340554.6:p.Glu23213Ter
ENST00000359218.10:c.69436G>T (TTN) ENSP00000352154.5:p.Glu23146Ter
ENST00000342175.10:c.69637G>T (TTN) ENSP00000340554.6:p.Glu23213Ter
ENST00000342992.10:c.88552G>T (TTN) ENSP00000343764.6:p.Glu29518Ter
ENST00000359218.9:c.69436G>T (TTN) ENSP00000352154.5:p.Glu23146Ter
ENST00000460472.6:c.69061G>T (TTN) ENSP00000434586.1:p.Glu23021Ter
ENST00000589042.5:c.96256G>T (TTN) MANE Select ENSP00000467141.1:p.Glu32086Ter
ENST00000591111.5:c.91333G>T (TTN) ENSP00000465570.1:p.Glu30445Ter
ENST00000615779.4:c.91333G>T (TTN) ENSP00000483597.1:p.Glu30445Ter
NM_001256850.1:c.91333G>T (TTN) NP_001243779.1:p.Glu30445Ter
NM_001267550.2:c.96256G>T (TTN) MANE Select NP_001254479.2:p.Glu32086Ter
NM_003319.4:c.69061G>T (TTN) NP_003310.4:p.Glu23021Ter
NM_133378.4:c.88552G>T (TTN) NP_596869.4:p.Glu29518Ter
NM_133432.3:c.69436G>T (TTN) NP_597676.3:p.Glu23146Ter
NM_133437.4:c.69637G>T (TTN) NP_597681.4:p.Glu23213Ter
NR_038271.1:n.446+20252C>A (TTN-AS1)
NR_038272.1:n.2043+1527C>A (TTN-AS1)
XM_011511729.1:c.95353G>T (TTN) XP_011510031.1:p.Glu31785Ter
XM_011511730.1:c.69247G>T (TTN) XP_011510032.1:p.Glu23083Ter
XM_011511731.1:c.69106G>T (TTN) XP_011510033.1:p.Glu23036Ter
XM_017004819.1:c.95149G>T (TTN) XP_016860308.1:p.Glu31717Ter
XM_017004820.1:c.90547G>T (TTN) XP_016860309.1:p.Glu30183Ter
XM_017004821.1:c.90544G>T (TTN) XP_016860310.1:p.Glu30182Ter
XM_017004822.1:c.87586G>T (TTN) XP_016860311.1:p.Glu29196Ter
XM_017004823.1:c.69202G>T (TTN) XP_016860312.1:p.Glu23068Ter
XM_024453094.1:c.90697G>T (TTN) XP_024308862.1:p.Glu30233Ter
XM_024453095.1:c.90694G>T (TTN) XP_024308863.1:p.Glu30232Ter
XM_024453096.1:c.90127G>T (TTN) XP_024308864.1:p.Glu30043Ter
XM_024453097.1:c.87469G>T (TTN) XP_024308865.1:p.Glu29157Ter
XM_024453098.1:c.87388G>T (TTN) XP_024308866.1:p.Glu29130Ter
XM_024453099.1:c.69151G>T (TTN) XP_024308867.1:p.Glu23051Ter
XM_024453100.1:c.59005G>T (TTN) XP_024308868.1:p.Glu19669Ter