Canonical Allele Identifier: CA349411684

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532157C>G , CM000664.2:g.178532157C>G GRCh38
NC_000002.11:g.179396884C>G , CM000664.1:g.179396884C>G GRCh37
NC_000002.10:g.179105130C>G NCBI36
NG_011618.3:g.303646G>C , LRG_391:g.303646G>C
NG_051363.1:g.14331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96754G>C (TTN) ENSP00000343764.6:p.Glu32252Gln
ENST00000342175.11:c.77839G>C (TTN) ENSP00000340554.6:p.Glu25947Gln
ENST00000359218.10:c.77638G>C (TTN) ENSP00000352154.5:p.Glu25880Gln
ENST00000342175.10:c.77839G>C (TTN) ENSP00000340554.6:p.Glu25947Gln
ENST00000342992.10:c.96754G>C (TTN) ENSP00000343764.6:p.Glu32252Gln
ENST00000359218.9:c.77638G>C (TTN) ENSP00000352154.5:p.Glu25880Gln
ENST00000460472.6:c.77263G>C (TTN) ENSP00000434586.1:p.Glu25755Gln
ENST00000589042.5:c.104458G>C (TTN) MANE Select ENSP00000467141.1:p.Glu34820Gln
ENST00000591111.5:c.99535G>C (TTN) ENSP00000465570.1:p.Glu33179Gln
ENST00000615779.4:c.99535G>C (TTN) ENSP00000483597.1:p.Glu33179Gln
NM_001256850.1:c.99535G>C (TTN) NP_001243779.1:p.Glu33179Gln
NM_001267550.2:c.104458G>C (TTN) MANE Select NP_001254479.2:p.Glu34820Gln
NM_003319.4:c.77263G>C (TTN) NP_003310.4:p.Glu25755Gln
NM_133378.4:c.96754G>C (TTN) NP_596869.4:p.Glu32252Gln
NM_133432.3:c.77638G>C (TTN) NP_597676.3:p.Glu25880Gln
NM_133437.4:c.77839G>C (TTN) NP_597681.4:p.Glu25947Gln
NR_038271.1:n.446+8521C>G (TTN-AS1)
NR_038272.1:n.220-3575C>G (TTN-AS1)
XM_011511729.1:c.103555G>C (TTN) XP_011510031.1:p.Glu34519Gln
XM_011511730.1:c.77449G>C (TTN) XP_011510032.1:p.Glu25817Gln
XM_011511731.1:c.77308G>C (TTN) XP_011510033.1:p.Glu25770Gln
XM_017004819.1:c.103351G>C (TTN) XP_016860308.1:p.Glu34451Gln
XM_017004820.1:c.98749G>C (TTN) XP_016860309.1:p.Glu32917Gln
XM_017004821.1:c.98746G>C (TTN) XP_016860310.1:p.Glu32916Gln
XM_017004822.1:c.95788G>C (TTN) XP_016860311.1:p.Glu31930Gln
XM_017004823.1:c.77404G>C (TTN) XP_016860312.1:p.Glu25802Gln
XM_024453094.1:c.98899G>C (TTN) XP_024308862.1:p.Glu32967Gln
XM_024453095.1:c.98896G>C (TTN) XP_024308863.1:p.Glu32966Gln
XM_024453096.1:c.98329G>C (TTN) XP_024308864.1:p.Glu32777Gln
XM_024453097.1:c.95671G>C (TTN) XP_024308865.1:p.Glu31891Gln
XM_024453098.1:c.95590G>C (TTN) XP_024308866.1:p.Glu31864Gln
XM_024453099.1:c.77353G>C (TTN) XP_024308867.1:p.Glu25785Gln
XM_024453100.1:c.67207G>C (TTN) XP_024308868.1:p.Glu22403Gln