Canonical Allele Identifier: CA349456380

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544345T>G , CM000664.2:g.178544345T>G GRCh38
NC_000002.11:g.179409072T>G , CM000664.1:g.179409072T>G GRCh37
NC_000002.10:g.179117318T>G NCBI36
NG_011618.3:g.291458A>C , LRG_391:g.291458A>C
NG_051363.1:g.26519T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88180A>C (TTN) ENSP00000343764.6:p.Asn29394His
ENST00000342175.11:c.69265A>C (TTN) ENSP00000340554.6:p.Asn23089His
ENST00000359218.10:c.69064A>C (TTN) ENSP00000352154.5:p.Asn23022His
ENST00000342175.10:c.69265A>C (TTN) ENSP00000340554.6:p.Asn23089His
ENST00000342992.10:c.88180A>C (TTN) ENSP00000343764.6:p.Asn29394His
ENST00000359218.9:c.69064A>C (TTN) ENSP00000352154.5:p.Asn23022His
ENST00000460472.6:c.68689A>C (TTN) ENSP00000434586.1:p.Asn22897His
ENST00000589042.5:c.95884A>C (TTN) MANE Select ENSP00000467141.1:p.Asn31962His
ENST00000591111.5:c.90961A>C (TTN) ENSP00000465570.1:p.Asn30321His
ENST00000615779.4:c.90961A>C (TTN) ENSP00000483597.1:p.Asn30321His
NM_001256850.1:c.90961A>C (TTN) NP_001243779.1:p.Asn30321His
NM_001267550.2:c.95884A>C (TTN) MANE Select NP_001254479.2:p.Asn31962His
NM_003319.4:c.68689A>C (TTN) NP_003310.4:p.Asn22897His
NM_133378.4:c.88180A>C (TTN) NP_596869.4:p.Asn29394His
NM_133432.3:c.69064A>C (TTN) NP_597676.3:p.Asn23022His
NM_133437.4:c.69265A>C (TTN) NP_597681.4:p.Asn23089His
NR_038271.1:n.446+20709T>G (TTN-AS1)
NR_038272.1:n.2043+1984T>G (TTN-AS1)
XM_011511729.1:c.94981A>C (TTN) XP_011510031.1:p.Asn31661His
XM_011511730.1:c.68875A>C (TTN) XP_011510032.1:p.Asn22959His
XM_011511731.1:c.68734A>C (TTN) XP_011510033.1:p.Asn22912His
XM_017004819.1:c.94777A>C (TTN) XP_016860308.1:p.Asn31593His
XM_017004820.1:c.90175A>C (TTN) XP_016860309.1:p.Asn30059His
XM_017004821.1:c.90172A>C (TTN) XP_016860310.1:p.Asn30058His
XM_017004822.1:c.87214A>C (TTN) XP_016860311.1:p.Asn29072His
XM_017004823.1:c.68830A>C (TTN) XP_016860312.1:p.Asn22944His
XM_024453094.1:c.90325A>C (TTN) XP_024308862.1:p.Asn30109His
XM_024453095.1:c.90322A>C (TTN) XP_024308863.1:p.Asn30108His
XM_024453096.1:c.89755A>C (TTN) XP_024308864.1:p.Asn29919His
XM_024453097.1:c.87097A>C (TTN) XP_024308865.1:p.Asn29033His
XM_024453098.1:c.87016A>C (TTN) XP_024308866.1:p.Asn29006His
XM_024453099.1:c.68779A>C (TTN) XP_024308867.1:p.Asn22927His
XM_024453100.1:c.58633A>C (TTN) XP_024308868.1:p.Asn19545His