Canonical Allele Identifier: CA349454506

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544114T>A , CM000664.2:g.178544114T>A GRCh38
NC_000002.11:g.179408841T>A , CM000664.1:g.179408841T>A GRCh37
NC_000002.10:g.179117087T>A NCBI36
NG_011618.3:g.291689A>T , LRG_391:g.291689A>T
NG_051363.1:g.26288T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88326A>T (TTN) ENSP00000343764.6:p.Glu29442Asp
ENST00000342175.11:c.69411A>T (TTN) ENSP00000340554.6:p.Glu23137Asp
ENST00000359218.10:c.69210A>T (TTN) ENSP00000352154.5:p.Glu23070Asp
ENST00000342175.10:c.69411A>T (TTN) ENSP00000340554.6:p.Glu23137Asp
ENST00000342992.10:c.88326A>T (TTN) ENSP00000343764.6:p.Glu29442Asp
ENST00000359218.9:c.69210A>T (TTN) ENSP00000352154.5:p.Glu23070Asp
ENST00000460472.6:c.68835A>T (TTN) ENSP00000434586.1:p.Glu22945Asp
ENST00000589042.5:c.96030A>T (TTN) MANE Select ENSP00000467141.1:p.Glu32010Asp
ENST00000591111.5:c.91107A>T (TTN) ENSP00000465570.1:p.Glu30369Asp
ENST00000615779.4:c.91107A>T (TTN) ENSP00000483597.1:p.Glu30369Asp
NM_001256850.1:c.91107A>T (TTN) NP_001243779.1:p.Glu30369Asp
NM_001267550.2:c.96030A>T (TTN) MANE Select NP_001254479.2:p.Glu32010Asp
NM_003319.4:c.68835A>T (TTN) NP_003310.4:p.Glu22945Asp
NM_133378.4:c.88326A>T (TTN) NP_596869.4:p.Glu29442Asp
NM_133432.3:c.69210A>T (TTN) NP_597676.3:p.Glu23070Asp
NM_133437.4:c.69411A>T (TTN) NP_597681.4:p.Glu23137Asp
NR_038271.1:n.446+20478T>A (TTN-AS1)
NR_038272.1:n.2043+1753T>A (TTN-AS1)
XM_011511729.1:c.95127A>T (TTN) XP_011510031.1:p.Glu31709Asp
XM_011511730.1:c.69021A>T (TTN) XP_011510032.1:p.Glu23007Asp
XM_011511731.1:c.68880A>T (TTN) XP_011510033.1:p.Glu22960Asp
XM_017004819.1:c.94923A>T (TTN) XP_016860308.1:p.Glu31641Asp
XM_017004820.1:c.90321A>T (TTN) XP_016860309.1:p.Glu30107Asp
XM_017004821.1:c.90318A>T (TTN) XP_016860310.1:p.Glu30106Asp
XM_017004822.1:c.87360A>T (TTN) XP_016860311.1:p.Glu29120Asp
XM_017004823.1:c.68976A>T (TTN) XP_016860312.1:p.Glu22992Asp
XM_024453094.1:c.90471A>T (TTN) XP_024308862.1:p.Glu30157Asp
XM_024453095.1:c.90468A>T (TTN) XP_024308863.1:p.Glu30156Asp
XM_024453096.1:c.89901A>T (TTN) XP_024308864.1:p.Glu29967Asp
XM_024453097.1:c.87243A>T (TTN) XP_024308865.1:p.Glu29081Asp
XM_024453098.1:c.87162A>T (TTN) XP_024308866.1:p.Glu29054Asp
XM_024453099.1:c.68925A>T (TTN) XP_024308867.1:p.Glu22975Asp
XM_024453100.1:c.58779A>T (TTN) XP_024308868.1:p.Glu19593Asp