Canonical Allele Identifier: CA1310523482

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546871T= , CM000664.2:g.178546871T= GRCh38
NC_000002.11:g.179411598T= , CM000664.1:g.179411598T= GRCh37
NC_000002.10:g.179119844T= NCBI36
NG_011618.3:g.288932A= , LRG_391:g.288932A=
NG_051363.1:g.29045T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86853A= (TTN) ENSP00000343764.6:p.Thr28951=
ENST00000342175.11:c.67938A= (TTN) ENSP00000340554.6:p.Thr22646=
ENST00000359218.10:c.67737A= (TTN) ENSP00000352154.5:p.Thr22579=
ENST00000342175.10:c.67938A= (TTN) ENSP00000340554.6:p.Thr22646=
ENST00000342992.10:c.86853A= (TTN) ENSP00000343764.6:p.Thr28951=
ENST00000359218.9:c.67737A= (TTN) ENSP00000352154.5:p.Thr22579=
ENST00000460472.6:c.67362A= (TTN) ENSP00000434586.1:p.Thr22454=
ENST00000589042.5:c.94557A= (TTN) MANE Select ENSP00000467141.1:p.Thr31519=
ENST00000591111.5:c.89634A= (TTN) ENSP00000465570.1:p.Thr29878=
ENST00000615779.4:c.89634A= (TTN) ENSP00000483597.1:p.Thr29878=
NM_001256850.1:c.89634A= (TTN) NP_001243779.1:p.Thr29878=
NM_001267550.2:c.94557A= (TTN) MANE Select NP_001254479.2:p.Thr31519=
NM_003319.4:c.67362A= (TTN) NP_003310.4:p.Thr22454=
NM_133378.4:c.86853A= (TTN) NP_596869.4:p.Thr28951=
NM_133432.3:c.67737A= (TTN) NP_597676.3:p.Thr22579=
NM_133437.4:c.67938A= (TTN) NP_597681.4:p.Thr22646=
NR_038271.1:n.446+23235T= (TTN-AS1)
NR_038272.1:n.2043+4510T= (TTN-AS1)
XM_011511729.1:c.93654A= (TTN) XP_011510031.1:p.Thr31218=
XM_011511730.1:c.67548A= (TTN) XP_011510032.1:p.Thr22516=
XM_011511731.1:c.67407A= (TTN) XP_011510033.1:p.Thr22469=
XM_017004819.1:c.93450A= (TTN) XP_016860308.1:p.Thr31150=
XM_017004820.1:c.88848A= (TTN) XP_016860309.1:p.Thr29616=
XM_017004821.1:c.88845A= (TTN) XP_016860310.1:p.Thr29615=
XM_017004822.1:c.85887A= (TTN) XP_016860311.1:p.Thr28629=
XM_017004823.1:c.67503A= (TTN) XP_016860312.1:p.Thr22501=
XM_024453094.1:c.88998A= (TTN) XP_024308862.1:p.Thr29666=
XM_024453095.1:c.88995A= (TTN) XP_024308863.1:p.Thr29665=
XM_024453096.1:c.88428A= (TTN) XP_024308864.1:p.Thr29476=
XM_024453097.1:c.85770A= (TTN) XP_024308865.1:p.Thr28590=
XM_024453098.1:c.85689A= (TTN) XP_024308866.1:p.Thr28563=
XM_024453099.1:c.67452A= (TTN) XP_024308867.1:p.Thr22484=
XM_024453100.1:c.57306A= (TTN) XP_024308868.1:p.Thr19102=