Canonical Allele Identifier: CA1310521123

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543854G= , CM000664.2:g.178543854G= GRCh38
NC_000002.11:g.179408581G= , CM000664.1:g.179408581G= GRCh37
NC_000002.10:g.179116827G= NCBI36
NG_011618.3:g.291949C= , LRG_391:g.291949C=
NG_051363.1:g.26028G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88586C= (TTN) ENSP00000343764.6:p.Thr29529=
ENST00000342175.11:c.69671C= (TTN) ENSP00000340554.6:p.Thr23224=
ENST00000359218.10:c.69470C= (TTN) ENSP00000352154.5:p.Thr23157=
ENST00000342175.10:c.69671C= (TTN) ENSP00000340554.6:p.Thr23224=
ENST00000342992.10:c.88586C= (TTN) ENSP00000343764.6:p.Thr29529=
ENST00000359218.9:c.69470C= (TTN) ENSP00000352154.5:p.Thr23157=
ENST00000460472.6:c.69095C= (TTN) ENSP00000434586.1:p.Thr23032=
ENST00000589042.5:c.96290C= (TTN) MANE Select ENSP00000467141.1:p.Thr32097=
ENST00000591111.5:c.91367C= (TTN) ENSP00000465570.1:p.Thr30456=
ENST00000615779.4:c.91367C= (TTN) ENSP00000483597.1:p.Thr30456=
NM_001256850.1:c.91367C= (TTN) NP_001243779.1:p.Thr30456=
NM_001267550.2:c.96290C= (TTN) MANE Select NP_001254479.2:p.Thr32097=
NM_003319.4:c.69095C= (TTN) NP_003310.4:p.Thr23032=
NM_133378.4:c.88586C= (TTN) NP_596869.4:p.Thr29529=
NM_133432.3:c.69470C= (TTN) NP_597676.3:p.Thr23157=
NM_133437.4:c.69671C= (TTN) NP_597681.4:p.Thr23224=
NR_038271.1:n.446+20218G= (TTN-AS1)
NR_038272.1:n.2043+1493G= (TTN-AS1)
XM_011511729.1:c.95387C= (TTN) XP_011510031.1:p.Thr31796=
XM_011511730.1:c.69281C= (TTN) XP_011510032.1:p.Thr23094=
XM_011511731.1:c.69140C= (TTN) XP_011510033.1:p.Thr23047=
XM_017004819.1:c.95183C= (TTN) XP_016860308.1:p.Thr31728=
XM_017004820.1:c.90581C= (TTN) XP_016860309.1:p.Thr30194=
XM_017004821.1:c.90578C= (TTN) XP_016860310.1:p.Thr30193=
XM_017004822.1:c.87620C= (TTN) XP_016860311.1:p.Thr29207=
XM_017004823.1:c.69236C= (TTN) XP_016860312.1:p.Thr23079=
XM_024453094.1:c.90731C= (TTN) XP_024308862.1:p.Thr30244=
XM_024453095.1:c.90728C= (TTN) XP_024308863.1:p.Thr30243=
XM_024453096.1:c.90161C= (TTN) XP_024308864.1:p.Thr30054=
XM_024453097.1:c.87503C= (TTN) XP_024308865.1:p.Thr29168=
XM_024453098.1:c.87422C= (TTN) XP_024308866.1:p.Thr29141=
XM_024453099.1:c.69185C= (TTN) XP_024308867.1:p.Thr23062=
XM_024453100.1:c.59039C= (TTN) XP_024308868.1:p.Thr19680=