Canonical Allele Identifier: CA1985412
Community Standard Title: NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532097G>A , CM000664.2:g.178532097G>A GRCh38
NC_000002.11:g.179396824G>A , CM000664.1:g.179396824G>A GRCh37
NC_000002.10:g.179105070G>A NCBI36
NG_011618.3:g.303706C>T , LRG_391:g.303706C>T
NG_051363.1:g.14271G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104518C>T (TTN) MANE Select NP_001254479.2:p.Arg34840Trp
ENST00000589042.5:c.104518C>T (TTN) MANE Select ENSP00000467141.1:p.Arg34840Trp
NM_001256850.1:c.99595C>T (TTN) NP_001243779.1:p.Arg33199Trp
NM_003319.4:c.77323C>T (TTN) NP_003310.4:p.Arg25775Trp
NM_133378.4:c.96814C>T (TTN) NP_596869.4:p.Arg32272Trp
NM_133432.3:c.77698C>T (TTN) NP_597676.3:p.Arg25900Trp
NM_133437.4:c.77899C>T (TTN) NP_597681.4:p.Arg25967Trp
NR_038271.1:n.446+8461G>A (TTN-AS1)
NR_038272.1:n.220-3635G>A (TTN-AS1)
ENST00000342175.10:c.77899C>T (TTN) ENSP00000340554.6:p.Arg25967Trp
ENST00000342175.11:c.77899C>T (TTN) ENSP00000340554.6:p.Arg25967Trp
ENST00000342992.10:c.96814C>T (TTN) ENSP00000343764.6:p.Arg32272Trp
ENST00000342992.11:c.96814C>T (TTN) ENSP00000343764.6:p.Arg32272Trp
ENST00000359218.10:c.77698C>T (TTN) ENSP00000352154.5:p.Arg25900Trp
ENST00000359218.9:c.77698C>T (TTN) ENSP00000352154.5:p.Arg25900Trp
ENST00000460472.6:c.77323C>T (TTN) ENSP00000434586.1:p.Arg25775Trp
ENST00000591111.5:c.99595C>T (TTN) ENSP00000465570.1:p.Arg33199Trp
ENST00000615779.4:c.99595C>T (TTN) ENSP00000483597.1:p.Arg33199Trp
XM_011511729.1:c.103615C>T (TTN) XP_011510031.1:p.Arg34539Trp
XM_011511730.1:c.77509C>T (TTN) XP_011510032.1:p.Arg25837Trp
XM_011511731.1:c.77368C>T (TTN) XP_011510033.1:p.Arg25790Trp
XM_017004819.1:c.103411C>T (TTN) XP_016860308.1:p.Arg34471Trp
XM_017004820.1:c.98809C>T (TTN) XP_016860309.1:p.Arg32937Trp
XM_017004821.1:c.98806C>T (TTN) XP_016860310.1:p.Arg32936Trp
XM_017004822.1:c.95848C>T (TTN) XP_016860311.1:p.Arg31950Trp
XM_017004823.1:c.77464C>T (TTN) XP_016860312.1:p.Arg25822Trp
XM_024453094.1:c.98959C>T (TTN) XP_024308862.1:p.Arg32987Trp
XM_024453095.1:c.98956C>T (TTN) XP_024308863.1:p.Arg32986Trp
XM_024453096.1:c.98389C>T (TTN) XP_024308864.1:p.Arg32797Trp
XM_024453097.1:c.95731C>T (TTN) XP_024308865.1:p.Arg31911Trp
XM_024453098.1:c.95650C>T (TTN) XP_024308866.1:p.Arg31884Trp
XM_024453099.1:c.77413C>T (TTN) XP_024308867.1:p.Arg25805Trp
XM_024453100.1:c.67267C>T (TTN) XP_024308868.1:p.Arg22423Trp