Canonical Allele Identifier: CA1310518758
Community Standard Title: NM_001267550.2(TTN):c.102949C= (p.Gln34317=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533666G= , CM000664.2:g.178533666G= GRCh38
NC_000002.11:g.179398393G= , CM000664.1:g.179398393G= GRCh37
NC_000002.10:g.179106639G= NCBI36
NG_011618.3:g.302137C= , LRG_391:g.302137C=
NG_051363.1:g.15840G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102949C= (TTN) MANE Select NP_001254479.2:p.Gln34317=
ENST00000589042.5:c.102949C= (TTN) MANE Select ENSP00000467141.1:p.Gln34317=
NM_001256850.1:c.98026C= (TTN) NP_001243779.1:p.Gln32676=
NM_003319.4:c.75754C= (TTN) NP_003310.4:p.Gln25252=
NM_133378.4:c.95245C= (TTN) NP_596869.4:p.Gln31749=
NM_133432.3:c.76129C= (TTN) NP_597676.3:p.Gln25377=
NM_133437.4:c.76330C= (TTN) NP_597681.4:p.Gln25444=
NR_038271.1:n.446+10030G= (TTN-AS1)
NR_038272.1:n.220-2066G= (TTN-AS1)
ENST00000342175.10:c.76330C= (TTN) ENSP00000340554.6:p.Gln25444=
ENST00000342175.11:c.76330C= (TTN) ENSP00000340554.6:p.Gln25444=
ENST00000342992.10:c.95245C= (TTN) ENSP00000343764.6:p.Gln31749=
ENST00000342992.11:c.95245C= (TTN) ENSP00000343764.6:p.Gln31749=
ENST00000359218.10:c.76129C= (TTN) ENSP00000352154.5:p.Gln25377=
ENST00000359218.9:c.76129C= (TTN) ENSP00000352154.5:p.Gln25377=
ENST00000460472.6:c.75754C= (TTN) ENSP00000434586.1:p.Gln25252=
ENST00000591111.5:c.98026C= (TTN) ENSP00000465570.1:p.Gln32676=
ENST00000615779.4:c.98026C= (TTN) ENSP00000483597.1:p.Gln32676=
XM_011511729.1:c.102046C= (TTN) XP_011510031.1:p.Gln34016=
XM_011511730.1:c.75940C= (TTN) XP_011510032.1:p.Gln25314=
XM_011511731.1:c.75799C= (TTN) XP_011510033.1:p.Gln25267=
XM_017004819.1:c.101842C= (TTN) XP_016860308.1:p.Gln33948=
XM_017004820.1:c.97240C= (TTN) XP_016860309.1:p.Gln32414=
XM_017004821.1:c.97237C= (TTN) XP_016860310.1:p.Gln32413=
XM_017004822.1:c.94279C= (TTN) XP_016860311.1:p.Gln31427=
XM_017004823.1:c.75895C= (TTN) XP_016860312.1:p.Gln25299=
XM_024453094.1:c.97390C= (TTN) XP_024308862.1:p.Gln32464=
XM_024453095.1:c.97387C= (TTN) XP_024308863.1:p.Gln32463=
XM_024453096.1:c.96820C= (TTN) XP_024308864.1:p.Gln32274=
XM_024453097.1:c.94162C= (TTN) XP_024308865.1:p.Gln31388=
XM_024453098.1:c.94081C= (TTN) XP_024308866.1:p.Gln31361=
XM_024453099.1:c.75844C= (TTN) XP_024308867.1:p.Gln25282=
XM_024453100.1:c.65698C= (TTN) XP_024308868.1:p.Gln21900=