Canonical Allele Identifier: CA349411954

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532274G>C , CM000664.2:g.178532274G>C GRCh38
NC_000002.11:g.179397001G>C , CM000664.1:g.179397001G>C GRCh37
NC_000002.10:g.179105247G>C NCBI36
NG_011618.3:g.303529C>G , LRG_391:g.303529C>G
NG_051363.1:g.14448G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96637C>G (TTN) ENSP00000343764.6:p.Gln32213Glu
ENST00000342175.11:c.77722C>G (TTN) ENSP00000340554.6:p.Gln25908Glu
ENST00000359218.10:c.77521C>G (TTN) ENSP00000352154.5:p.Gln25841Glu
ENST00000342175.10:c.77722C>G (TTN) ENSP00000340554.6:p.Gln25908Glu
ENST00000342992.10:c.96637C>G (TTN) ENSP00000343764.6:p.Gln32213Glu
ENST00000359218.9:c.77521C>G (TTN) ENSP00000352154.5:p.Gln25841Glu
ENST00000460472.6:c.77146C>G (TTN) ENSP00000434586.1:p.Gln25716Glu
ENST00000589042.5:c.104341C>G (TTN) MANE Select ENSP00000467141.1:p.Gln34781Glu
ENST00000591111.5:c.99418C>G (TTN) ENSP00000465570.1:p.Gln33140Glu
ENST00000615779.4:c.99418C>G (TTN) ENSP00000483597.1:p.Gln33140Glu
NM_001256850.1:c.99418C>G (TTN) NP_001243779.1:p.Gln33140Glu
NM_001267550.2:c.104341C>G (TTN) MANE Select NP_001254479.2:p.Gln34781Glu
NM_003319.4:c.77146C>G (TTN) NP_003310.4:p.Gln25716Glu
NM_133378.4:c.96637C>G (TTN) NP_596869.4:p.Gln32213Glu
NM_133432.3:c.77521C>G (TTN) NP_597676.3:p.Gln25841Glu
NM_133437.4:c.77722C>G (TTN) NP_597681.4:p.Gln25908Glu
NR_038271.1:n.446+8638G>C (TTN-AS1)
NR_038272.1:n.220-3458G>C (TTN-AS1)
XM_011511729.1:c.103438C>G (TTN) XP_011510031.1:p.Gln34480Glu
XM_011511730.1:c.77332C>G (TTN) XP_011510032.1:p.Gln25778Glu
XM_011511731.1:c.77191C>G (TTN) XP_011510033.1:p.Gln25731Glu
XM_017004819.1:c.103234C>G (TTN) XP_016860308.1:p.Gln34412Glu
XM_017004820.1:c.98632C>G (TTN) XP_016860309.1:p.Gln32878Glu
XM_017004821.1:c.98629C>G (TTN) XP_016860310.1:p.Gln32877Glu
XM_017004822.1:c.95671C>G (TTN) XP_016860311.1:p.Gln31891Glu
XM_017004823.1:c.77287C>G (TTN) XP_016860312.1:p.Gln25763Glu
XM_024453094.1:c.98782C>G (TTN) XP_024308862.1:p.Gln32928Glu
XM_024453095.1:c.98779C>G (TTN) XP_024308863.1:p.Gln32927Glu
XM_024453096.1:c.98212C>G (TTN) XP_024308864.1:p.Gln32738Glu
XM_024453097.1:c.95554C>G (TTN) XP_024308865.1:p.Gln31852Glu
XM_024453098.1:c.95473C>G (TTN) XP_024308866.1:p.Gln31825Glu
XM_024453099.1:c.77236C>G (TTN) XP_024308867.1:p.Gln25746Glu
XM_024453100.1:c.67090C>G (TTN) XP_024308868.1:p.Gln22364Glu