Canonical Allele Identifier: CA349612324

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568994T>G , CM000664.2:g.178568994T>G GRCh38
NC_000002.11:g.179433721T>G , CM000664.1:g.179433721T>G GRCh37
NC_000002.10:g.179141967T>G NCBI36
NG_011618.3:g.266809A>C , LRG_391:g.266809A>C
NG_051363.1:g.51168T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69434A>C (TTN) ENSP00000343764.6:p.Asn23145Thr
ENST00000342175.11:c.50519A>C (TTN) ENSP00000340554.6:p.Asn16840Thr
ENST00000359218.10:c.50318A>C (TTN) ENSP00000352154.5:p.Asn16773Thr
ENST00000342175.10:c.50519A>C (TTN) ENSP00000340554.6:p.Asn16840Thr
ENST00000342992.10:c.69434A>C (TTN) ENSP00000343764.6:p.Asn23145Thr
ENST00000359218.9:c.50318A>C (TTN) ENSP00000352154.5:p.Asn16773Thr
ENST00000460472.6:c.49943A>C (TTN) ENSP00000434586.1:p.Asn16648Thr
ENST00000589042.5:c.77138A>C (TTN) MANE Select ENSP00000467141.1:p.Asn25713Thr
ENST00000591111.5:c.72215A>C (TTN) ENSP00000465570.1:p.Asn24072Thr
ENST00000615779.4:c.72215A>C (TTN) ENSP00000483597.1:p.Asn24072Thr
NM_001256850.1:c.72215A>C (TTN) NP_001243779.1:p.Asn24072Thr
NM_001267550.2:c.77138A>C (TTN) MANE Select NP_001254479.2:p.Asn25713Thr
NM_003319.4:c.49943A>C (TTN) NP_003310.4:p.Asn16648Thr
NM_133378.4:c.69434A>C (TTN) NP_596869.4:p.Asn23145Thr
NM_133432.3:c.50318A>C (TTN) NP_597676.3:p.Asn16773Thr
NM_133437.4:c.50519A>C (TTN) NP_597681.4:p.Asn16840Thr
NR_038271.1:n.447-2306T>G (TTN-AS1)
NR_038272.1:n.2044-13578T>G (TTN-AS1)
XM_011511729.1:c.76235A>C (TTN) XP_011510031.1:p.Asn25412Thr
XM_011511730.1:c.50129A>C (TTN) XP_011510032.1:p.Asn16710Thr
XM_011511731.1:c.49988A>C (TTN) XP_011510033.1:p.Asn16663Thr
XM_017004819.1:c.76031A>C (TTN) XP_016860308.1:p.Asn25344Thr
XM_017004820.1:c.71429A>C (TTN) XP_016860309.1:p.Asn23810Thr
XM_017004821.1:c.71426A>C (TTN) XP_016860310.1:p.Asn23809Thr
XM_017004822.1:c.68468A>C (TTN) XP_016860311.1:p.Asn22823Thr
XM_017004823.1:c.50084A>C (TTN) XP_016860312.1:p.Asn16695Thr
XM_024453094.1:c.71579A>C (TTN) XP_024308862.1:p.Asn23860Thr
XM_024453095.1:c.71576A>C (TTN) XP_024308863.1:p.Asn23859Thr
XM_024453096.1:c.71009A>C (TTN) XP_024308864.1:p.Asn23670Thr
XM_024453097.1:c.68351A>C (TTN) XP_024308865.1:p.Asn22784Thr
XM_024453098.1:c.68270A>C (TTN) XP_024308866.1:p.Asn22757Thr
XM_024453099.1:c.50033A>C (TTN) XP_024308867.1:p.Asn16678Thr
XM_024453100.1:c.39887A>C (TTN) XP_024308868.1:p.Asn13296Thr