Canonical Allele Identifier: CA1310551719
Community Standard Title: NM_001267550.2(TTN):c.46236C= (p.Cys15412=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620285G= , CM000664.2:g.178620285G= GRCh38
NC_000002.11:g.179485012G= , CM000664.1:g.179485012G= GRCh37
NC_000002.10:g.179193257G= NCBI36
NG_011618.3:g.215518C= , LRG_391:g.215518C=
NG_051363.1:g.102459G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46236C= MANE Select NP_001254479.2:p.Cys15412=
ENST00000589042.5:c.46236C= MANE Select ENSP00000467141.1:p.Cys15412=
NM_001256850.1:c.41313C= NP_001243779.1:p.Cys13771=
NM_003319.4:c.19041C= NP_003310.4:p.Cys6347=
NM_133378.4:c.38532C= NP_596869.4:p.Cys12844=
NM_133432.3:c.19416C= NP_597676.3:p.Cys6472=
NM_133437.4:c.19617C= NP_597681.4:p.Cys6539=
ENST00000342175.10:c.19617C= ENSP00000340554.6:p.Cys6539=
ENST00000342175.11:c.19617C= ENSP00000340554.6:p.Cys6539=
ENST00000342992.10:c.38532C= ENSP00000343764.6:p.Cys12844=
ENST00000342992.11:c.38532C= ENSP00000343764.6:p.Cys12844=
ENST00000359218.10:c.19416C= ENSP00000352154.5:p.Cys6472=
ENST00000359218.9:c.19416C= ENSP00000352154.5:p.Cys6472=
ENST00000460472.6:c.19041C= ENSP00000434586.1:p.Cys6347=
ENST00000591111.5:c.41313C= ENSP00000465570.1:p.Cys13771=
ENST00000615779.4:c.41313C= ENSP00000483597.1:p.Cys13771=
XM_011511729.1:c.45333C= XP_011510031.1:p.Cys15111=
XM_011511730.1:c.19227C= XP_011510032.1:p.Cys6409=
XM_011511731.1:c.19086C= XP_011510033.1:p.Cys6362=
XM_017004819.1:c.45129C= XP_016860308.1:p.Cys15043=
XM_017004820.1:c.40527C= XP_016860309.1:p.Cys13509=
XM_017004821.1:c.40524C= XP_016860310.1:p.Cys13508=
XM_017004822.1:c.37566C= XP_016860311.1:p.Cys12522=
XM_017004823.1:c.19182C= XP_016860312.1:p.Cys6394=
XM_024453094.1:c.40677C= XP_024308862.1:p.Cys13559=
XM_024453095.1:c.40674C= XP_024308863.1:p.Cys13558=
XM_024453096.1:c.40107C= XP_024308864.1:p.Cys13369=
XM_024453097.1:c.37449C= XP_024308865.1:p.Cys12483=
XM_024453098.1:c.37368C= XP_024308866.1:p.Cys12456=
XM_024453099.1:c.19131C= XP_024308867.1:p.Cys6377=
XM_024453100.1:c.8985C= XP_024308868.1:p.Cys2995=