Canonical Allele Identifier: CA1985852
Community Standard Title: NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534936C>G , CM000664.2:g.178534936C>G GRCh38
NC_000002.11:g.179399663C>G , CM000664.1:g.179399663C>G GRCh37
NC_000002.10:g.179107909C>G NCBI36
NG_011618.3:g.300867G>C , LRG_391:g.300867G>C
NG_051363.1:g.17110C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101679G>C (TTN) MANE Select NP_001254479.2:p.Glu33893Asp
ENST00000589042.5:c.101679G>C (TTN) MANE Select ENSP00000467141.1:p.Glu33893Asp
NM_001256850.1:c.96756G>C (TTN) NP_001243779.1:p.Glu32252Asp
NM_003319.4:c.74484G>C (TTN) NP_003310.4:p.Glu24828Asp
NM_133378.4:c.93975G>C (TTN) NP_596869.4:p.Glu31325Asp
NM_133432.3:c.74859G>C (TTN) NP_597676.3:p.Glu24953Asp
NM_133437.4:c.75060G>C (TTN) NP_597681.4:p.Glu25020Asp
NR_038271.1:n.446+11300C>G (TTN-AS1)
NR_038272.1:n.220-796C>G (TTN-AS1)
ENST00000342175.10:c.75060G>C (TTN) ENSP00000340554.6:p.Glu25020Asp
ENST00000342175.11:c.75060G>C (TTN) ENSP00000340554.6:p.Glu25020Asp
ENST00000342992.10:c.93975G>C (TTN) ENSP00000343764.6:p.Glu31325Asp
ENST00000342992.11:c.93975G>C (TTN) ENSP00000343764.6:p.Glu31325Asp
ENST00000359218.10:c.74859G>C (TTN) ENSP00000352154.5:p.Glu24953Asp
ENST00000359218.9:c.74859G>C (TTN) ENSP00000352154.5:p.Glu24953Asp
ENST00000460472.6:c.74484G>C (TTN) ENSP00000434586.1:p.Glu24828Asp
ENST00000591111.5:c.96756G>C (TTN) ENSP00000465570.1:p.Glu32252Asp
ENST00000615779.4:c.96756G>C (TTN) ENSP00000483597.1:p.Glu32252Asp
XM_011511729.1:c.100776G>C (TTN) XP_011510031.1:p.Glu33592Asp
XM_011511730.1:c.74670G>C (TTN) XP_011510032.1:p.Glu24890Asp
XM_011511731.1:c.74529G>C (TTN) XP_011510033.1:p.Glu24843Asp
XM_017004819.1:c.100572G>C (TTN) XP_016860308.1:p.Glu33524Asp
XM_017004820.1:c.95970G>C (TTN) XP_016860309.1:p.Glu31990Asp
XM_017004821.1:c.95967G>C (TTN) XP_016860310.1:p.Glu31989Asp
XM_017004822.1:c.93009G>C (TTN) XP_016860311.1:p.Glu31003Asp
XM_017004823.1:c.74625G>C (TTN) XP_016860312.1:p.Glu24875Asp
XM_024453094.1:c.96120G>C (TTN) XP_024308862.1:p.Glu32040Asp
XM_024453095.1:c.96117G>C (TTN) XP_024308863.1:p.Glu32039Asp
XM_024453096.1:c.95550G>C (TTN) XP_024308864.1:p.Glu31850Asp
XM_024453097.1:c.92892G>C (TTN) XP_024308865.1:p.Glu30964Asp
XM_024453098.1:c.92811G>C (TTN) XP_024308866.1:p.Glu30937Asp
XM_024453099.1:c.74574G>C (TTN) XP_024308867.1:p.Glu24858Asp
XM_024453100.1:c.64428G>C (TTN) XP_024308868.1:p.Glu21476Asp