Canonical Allele Identifier: CA1985318
Community Standard Title: NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531552G>A , CM000664.2:g.178531552G>A GRCh38
NC_000002.11:g.179396279G>A , CM000664.1:g.179396279G>A GRCh37
NC_000002.10:g.179104525G>A NCBI36
NG_011618.3:g.304251C>T , LRG_391:g.304251C>T
NG_051363.1:g.13726G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105063C>T (TTN) MANE Select NP_001254479.2:p.Gly35021=
ENST00000589042.5:c.105063C>T (TTN) MANE Select ENSP00000467141.1:p.Gly35021=
NM_001256850.1:c.100140C>T (TTN) NP_001243779.1:p.Gly33380=
NM_003319.4:c.77868C>T (TTN) NP_003310.4:p.Gly25956=
NM_133378.4:c.97359C>T (TTN) NP_596869.4:p.Gly32453=
NM_133432.3:c.78243C>T (TTN) NP_597676.3:p.Gly26081=
NM_133437.4:c.78444C>T (TTN) NP_597681.4:p.Gly26148=
NR_038271.1:n.446+7916G>A (TTN-AS1)
NR_038272.1:n.220-4180G>A (TTN-AS1)
ENST00000342175.10:c.78444C>T (TTN) ENSP00000340554.6:p.Gly26148=
ENST00000342175.11:c.78444C>T (TTN) ENSP00000340554.6:p.Gly26148=
ENST00000342992.10:c.97359C>T (TTN) ENSP00000343764.6:p.Gly32453=
ENST00000342992.11:c.97359C>T (TTN) ENSP00000343764.6:p.Gly32453=
ENST00000359218.10:c.78243C>T (TTN) ENSP00000352154.5:p.Gly26081=
ENST00000359218.9:c.78243C>T (TTN) ENSP00000352154.5:p.Gly26081=
ENST00000460472.6:c.77868C>T (TTN) ENSP00000434586.1:p.Gly25956=
ENST00000591111.5:c.100140C>T (TTN) ENSP00000465570.1:p.Gly33380=
ENST00000615779.4:c.100140C>T (TTN) ENSP00000483597.1:p.Gly33380=
XM_011511729.1:c.104160C>T (TTN) XP_011510031.1:p.Gly34720=
XM_011511730.1:c.78054C>T (TTN) XP_011510032.1:p.Gly26018=
XM_011511731.1:c.77913C>T (TTN) XP_011510033.1:p.Gly25971=
XM_017004819.1:c.103956C>T (TTN) XP_016860308.1:p.Gly34652=
XM_017004820.1:c.99354C>T (TTN) XP_016860309.1:p.Gly33118=
XM_017004821.1:c.99351C>T (TTN) XP_016860310.1:p.Gly33117=
XM_017004822.1:c.96393C>T (TTN) XP_016860311.1:p.Gly32131=
XM_017004823.1:c.78009C>T (TTN) XP_016860312.1:p.Gly26003=
XM_024453094.1:c.99504C>T (TTN) XP_024308862.1:p.Gly33168=
XM_024453095.1:c.99501C>T (TTN) XP_024308863.1:p.Gly33167=
XM_024453096.1:c.98934C>T (TTN) XP_024308864.1:p.Gly32978=
XM_024453097.1:c.96276C>T (TTN) XP_024308865.1:p.Gly32092=
XM_024453098.1:c.96195C>T (TTN) XP_024308866.1:p.Gly32065=
XM_024453099.1:c.77958C>T (TTN) XP_024308867.1:p.Gly25986=
XM_024453100.1:c.67812C>T (TTN) XP_024308868.1:p.Gly22604=