Canonical Allele Identifier: CA1310527110

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560618A= , CM000664.2:g.178560618A= GRCh38
NC_000002.11:g.179425345A= , CM000664.1:g.179425345A= GRCh37
NC_000002.10:g.179133591A= NCBI36
NG_011618.3:g.275185T= , LRG_391:g.275185T=
NG_051363.1:g.42792A=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85514T= (TTN) MANE Select NP_001254479.2:p.Leu28505=
ENST00000589042.5:c.85514T= (TTN) MANE Select ENSP00000467141.1:p.Leu28505=
NM_001256850.1:c.80591T= (TTN) NP_001243779.1:p.Leu26864=
NM_003319.4:c.58319T= (TTN) NP_003310.4:p.Leu19440=
NM_133378.4:c.77810T= (TTN) NP_596869.4:p.Leu25937=
NM_133432.3:c.58694T= (TTN) NP_597676.3:p.Leu19565=
NM_133437.4:c.58895T= (TTN) NP_597681.4:p.Leu19632=
NR_038271.1:n.447-10682A= (TTN-AS1)
NR_038272.1:n.2043+18257A= (TTN-AS1)
ENST00000342175.10:c.58895T= (TTN) ENSP00000340554.6:p.Leu19632=
ENST00000342175.11:c.58895T= (TTN) ENSP00000340554.6:p.Leu19632=
ENST00000342992.10:c.77810T= (TTN) ENSP00000343764.6:p.Leu25937=
ENST00000342992.11:c.77810T= (TTN) ENSP00000343764.6:p.Leu25937=
ENST00000359218.10:c.58694T= (TTN) ENSP00000352154.5:p.Leu19565=
ENST00000359218.9:c.58694T= (TTN) ENSP00000352154.5:p.Leu19565=
ENST00000460472.6:c.58319T= (TTN) ENSP00000434586.1:p.Leu19440=
ENST00000591111.5:c.80591T= (TTN) ENSP00000465570.1:p.Leu26864=
ENST00000615779.4:c.80591T= (TTN) ENSP00000483597.1:p.Leu26864=
XM_011511729.1:c.84611T= (TTN) XP_011510031.1:p.Leu28204=
XM_011511730.1:c.58505T= (TTN) XP_011510032.1:p.Leu19502=
XM_011511731.1:c.58364T= (TTN) XP_011510033.1:p.Leu19455=
XM_017004819.1:c.84407T= (TTN) XP_016860308.1:p.Leu28136=
XM_017004820.1:c.79805T= (TTN) XP_016860309.1:p.Leu26602=
XM_017004821.1:c.79802T= (TTN) XP_016860310.1:p.Leu26601=
XM_017004822.1:c.76844T= (TTN) XP_016860311.1:p.Leu25615=
XM_017004823.1:c.58460T= (TTN) XP_016860312.1:p.Leu19487=
XM_024453094.1:c.79955T= (TTN) XP_024308862.1:p.Leu26652=
XM_024453095.1:c.79952T= (TTN) XP_024308863.1:p.Leu26651=
XM_024453096.1:c.79385T= (TTN) XP_024308864.1:p.Leu26462=
XM_024453097.1:c.76727T= (TTN) XP_024308865.1:p.Leu25576=
XM_024453098.1:c.76646T= (TTN) XP_024308866.1:p.Leu25549=
XM_024453099.1:c.58409T= (TTN) XP_024308867.1:p.Leu19470=
XM_024453100.1:c.48263T= (TTN) XP_024308868.1:p.Leu16088=