Canonical Allele Identifier: CA60967027
Community Standard Title: NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178541444G>A , CM000664.2:g.178541444G>A GRCh38
NC_000002.11:g.179406171G>A , CM000664.1:g.179406171G>A GRCh37
NC_000002.10:g.179114417G>A NCBI36
NG_011618.3:g.294359C>T , LRG_391:g.294359C>T
NG_051363.1:g.23618G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97633C>T (TTN) MANE Select NP_001254479.2:p.Arg32545Ter
ENST00000589042.5:c.97633C>T (TTN) MANE Select ENSP00000467141.1:p.Arg32545Ter
NM_001256850.1:c.92710C>T (TTN) NP_001243779.1:p.Arg30904Ter
NM_003319.4:c.70438C>T (TTN) NP_003310.4:p.Arg23480Ter
NM_133378.4:c.89929C>T (TTN) NP_596869.4:p.Arg29977Ter
NM_133432.3:c.70813C>T (TTN) NP_597676.3:p.Arg23605Ter
NM_133437.4:c.71014C>T (TTN) NP_597681.4:p.Arg23672Ter
NR_038271.1:n.446+17808G>A (TTN-AS1)
NR_038272.1:n.1904-778G>A (TTN-AS1)
ENST00000342175.10:c.71014C>T (TTN) ENSP00000340554.6:p.Arg23672Ter
ENST00000342175.11:c.71014C>T (TTN) ENSP00000340554.6:p.Arg23672Ter
ENST00000342992.10:c.89929C>T (TTN) ENSP00000343764.6:p.Arg29977Ter
ENST00000342992.11:c.89929C>T (TTN) ENSP00000343764.6:p.Arg29977Ter
ENST00000359218.10:c.70813C>T (TTN) ENSP00000352154.5:p.Arg23605Ter
ENST00000359218.9:c.70813C>T (TTN) ENSP00000352154.5:p.Arg23605Ter
ENST00000460472.6:c.70438C>T (TTN) ENSP00000434586.1:p.Arg23480Ter
ENST00000591111.5:c.92710C>T (TTN) ENSP00000465570.1:p.Arg30904Ter
ENST00000615779.4:c.92710C>T (TTN) ENSP00000483597.1:p.Arg30904Ter
XM_011511729.1:c.96730C>T (TTN) XP_011510031.1:p.Arg32244Ter
XM_011511730.1:c.70624C>T (TTN) XP_011510032.1:p.Arg23542Ter
XM_011511731.1:c.70483C>T (TTN) XP_011510033.1:p.Arg23495Ter
XM_017004819.1:c.96526C>T (TTN) XP_016860308.1:p.Arg32176Ter
XM_017004820.1:c.91924C>T (TTN) XP_016860309.1:p.Arg30642Ter
XM_017004821.1:c.91921C>T (TTN) XP_016860310.1:p.Arg30641Ter
XM_017004822.1:c.88963C>T (TTN) XP_016860311.1:p.Arg29655Ter
XM_017004823.1:c.70579C>T (TTN) XP_016860312.1:p.Arg23527Ter
XM_024453094.1:c.92074C>T (TTN) XP_024308862.1:p.Arg30692Ter
XM_024453095.1:c.92071C>T (TTN) XP_024308863.1:p.Arg30691Ter
XM_024453096.1:c.91504C>T (TTN) XP_024308864.1:p.Arg30502Ter
XM_024453097.1:c.88846C>T (TTN) XP_024308865.1:p.Arg29616Ter
XM_024453098.1:c.88765C>T (TTN) XP_024308866.1:p.Arg29589Ter
XM_024453099.1:c.70528C>T (TTN) XP_024308867.1:p.Arg23510Ter
XM_024453100.1:c.60382C>T (TTN) XP_024308868.1:p.Arg20128Ter