Canonical Allele Identifier: CA1310530972

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569101A= , CM000664.2:g.178569101A= GRCh38
NC_000002.11:g.179433828A= , CM000664.1:g.179433828A= GRCh37
NC_000002.10:g.179142074A= NCBI36
NG_011618.3:g.266702T= , LRG_391:g.266702T=
NG_051363.1:g.51275A=

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69327T= (TTN) ENSP00000343764.6:p.Ala23109=
ENST00000342175.11:c.50412T= (TTN) ENSP00000340554.6:p.Ala16804=
ENST00000359218.10:c.50211T= (TTN) ENSP00000352154.5:p.Ala16737=
ENST00000342175.10:c.50412T= (TTN) ENSP00000340554.6:p.Ala16804=
ENST00000342992.10:c.69327T= (TTN) ENSP00000343764.6:p.Ala23109=
ENST00000359218.9:c.50211T= (TTN) ENSP00000352154.5:p.Ala16737=
ENST00000460472.6:c.49836T= (TTN) ENSP00000434586.1:p.Ala16612=
ENST00000589042.5:c.77031T= (TTN) MANE Select ENSP00000467141.1:p.Ala25677=
ENST00000591111.5:c.72108T= (TTN) ENSP00000465570.1:p.Ala24036=
ENST00000615779.4:c.72108T= (TTN) ENSP00000483597.1:p.Ala24036=
NM_001256850.1:c.72108T= (TTN) NP_001243779.1:p.Ala24036=
NM_001267550.2:c.77031T= (TTN) MANE Select NP_001254479.2:p.Ala25677=
NM_003319.4:c.49836T= (TTN) NP_003310.4:p.Ala16612=
NM_133378.4:c.69327T= (TTN) NP_596869.4:p.Ala23109=
NM_133432.3:c.50211T= (TTN) NP_597676.3:p.Ala16737=
NM_133437.4:c.50412T= (TTN) NP_597681.4:p.Ala16804=
NR_038271.1:n.447-2199A= (TTN-AS1)
NR_038272.1:n.2044-13471A= (TTN-AS1)
XM_011511729.1:c.76128T= (TTN) XP_011510031.1:p.Ala25376=
XM_011511730.1:c.50022T= (TTN) XP_011510032.1:p.Ala16674=
XM_011511731.1:c.49881T= (TTN) XP_011510033.1:p.Ala16627=
XM_017004819.1:c.75924T= (TTN) XP_016860308.1:p.Ala25308=
XM_017004820.1:c.71322T= (TTN) XP_016860309.1:p.Ala23774=
XM_017004821.1:c.71319T= (TTN) XP_016860310.1:p.Ala23773=
XM_017004822.1:c.68361T= (TTN) XP_016860311.1:p.Ala22787=
XM_017004823.1:c.49977T= (TTN) XP_016860312.1:p.Ala16659=
XM_024453094.1:c.71472T= (TTN) XP_024308862.1:p.Ala23824=
XM_024453095.1:c.71469T= (TTN) XP_024308863.1:p.Ala23823=
XM_024453096.1:c.70902T= (TTN) XP_024308864.1:p.Ala23634=
XM_024453097.1:c.68244T= (TTN) XP_024308865.1:p.Ala22748=
XM_024453098.1:c.68163T= (TTN) XP_024308866.1:p.Ala22721=
XM_024453099.1:c.49926T= (TTN) XP_024308867.1:p.Ala16642=
XM_024453100.1:c.39780T= (TTN) XP_024308868.1:p.Ala13260=