Canonical Allele Identifier: CA349470118

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546617G>C , CM000664.2:g.178546617G>C GRCh38
NC_000002.11:g.179411344G>C , CM000664.1:g.179411344G>C GRCh37
NC_000002.10:g.179119590G>C NCBI36
NG_011618.3:g.289186C>G , LRG_391:g.289186C>G
NG_051363.1:g.28791G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87107C>G (TTN) ENSP00000343764.6:p.Thr29036Ser
ENST00000342175.11:c.68192C>G (TTN) ENSP00000340554.6:p.Thr22731Ser
ENST00000359218.10:c.67991C>G (TTN) ENSP00000352154.5:p.Thr22664Ser
ENST00000342175.10:c.68192C>G (TTN) ENSP00000340554.6:p.Thr22731Ser
ENST00000342992.10:c.87107C>G (TTN) ENSP00000343764.6:p.Thr29036Ser
ENST00000359218.9:c.67991C>G (TTN) ENSP00000352154.5:p.Thr22664Ser
ENST00000460472.6:c.67616C>G (TTN) ENSP00000434586.1:p.Thr22539Ser
ENST00000589042.5:c.94811C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31604Ser
ENST00000591111.5:c.89888C>G (TTN) ENSP00000465570.1:p.Thr29963Ser
ENST00000615779.4:c.89888C>G (TTN) ENSP00000483597.1:p.Thr29963Ser
NM_001256850.1:c.89888C>G (TTN) NP_001243779.1:p.Thr29963Ser
NM_001267550.2:c.94811C>G (TTN) MANE Select NP_001254479.2:p.Thr31604Ser
NM_003319.4:c.67616C>G (TTN) NP_003310.4:p.Thr22539Ser
NM_133378.4:c.87107C>G (TTN) NP_596869.4:p.Thr29036Ser
NM_133432.3:c.67991C>G (TTN) NP_597676.3:p.Thr22664Ser
NM_133437.4:c.68192C>G (TTN) NP_597681.4:p.Thr22731Ser
NR_038271.1:n.446+22981G>C (TTN-AS1)
NR_038272.1:n.2043+4256G>C (TTN-AS1)
XM_011511729.1:c.93908C>G (TTN) XP_011510031.1:p.Thr31303Ser
XM_011511730.1:c.67802C>G (TTN) XP_011510032.1:p.Thr22601Ser
XM_011511731.1:c.67661C>G (TTN) XP_011510033.1:p.Thr22554Ser
XM_017004819.1:c.93704C>G (TTN) XP_016860308.1:p.Thr31235Ser
XM_017004820.1:c.89102C>G (TTN) XP_016860309.1:p.Thr29701Ser
XM_017004821.1:c.89099C>G (TTN) XP_016860310.1:p.Thr29700Ser
XM_017004822.1:c.86141C>G (TTN) XP_016860311.1:p.Thr28714Ser
XM_017004823.1:c.67757C>G (TTN) XP_016860312.1:p.Thr22586Ser
XM_024453094.1:c.89252C>G (TTN) XP_024308862.1:p.Thr29751Ser
XM_024453095.1:c.89249C>G (TTN) XP_024308863.1:p.Thr29750Ser
XM_024453096.1:c.88682C>G (TTN) XP_024308864.1:p.Thr29561Ser
XM_024453097.1:c.86024C>G (TTN) XP_024308865.1:p.Thr28675Ser
XM_024453098.1:c.85943C>G (TTN) XP_024308866.1:p.Thr28648Ser
XM_024453099.1:c.67706C>G (TTN) XP_024308867.1:p.Thr22569Ser
XM_024453100.1:c.57560C>G (TTN) XP_024308868.1:p.Thr19187Ser