Canonical Allele Identifier: CA1985832
Community Standard Title: NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534762T>G , CM000664.2:g.178534762T>G GRCh38
NC_000002.11:g.179399489T>G , CM000664.1:g.179399489T>G GRCh37
NC_000002.10:g.179107735T>G NCBI36
NG_011618.3:g.301041A>C , LRG_391:g.301041A>C
NG_051363.1:g.16936T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101853A>C (TTN) MANE Select NP_001254479.2:p.Arg33951Ser
ENST00000589042.5:c.101853A>C (TTN) MANE Select ENSP00000467141.1:p.Arg33951Ser
NM_001256850.1:c.96930A>C (TTN) NP_001243779.1:p.Arg32310Ser
NM_003319.4:c.74658A>C (TTN) NP_003310.4:p.Arg24886Ser
NM_133378.4:c.94149A>C (TTN) NP_596869.4:p.Arg31383Ser
NM_133432.3:c.75033A>C (TTN) NP_597676.3:p.Arg25011Ser
NM_133437.4:c.75234A>C (TTN) NP_597681.4:p.Arg25078Ser
NR_038271.1:n.446+11126T>G (TTN-AS1)
NR_038272.1:n.220-970T>G (TTN-AS1)
ENST00000342175.10:c.75234A>C (TTN) ENSP00000340554.6:p.Arg25078Ser
ENST00000342175.11:c.75234A>C (TTN) ENSP00000340554.6:p.Arg25078Ser
ENST00000342992.10:c.94149A>C (TTN) ENSP00000343764.6:p.Arg31383Ser
ENST00000342992.11:c.94149A>C (TTN) ENSP00000343764.6:p.Arg31383Ser
ENST00000359218.10:c.75033A>C (TTN) ENSP00000352154.5:p.Arg25011Ser
ENST00000359218.9:c.75033A>C (TTN) ENSP00000352154.5:p.Arg25011Ser
ENST00000460472.6:c.74658A>C (TTN) ENSP00000434586.1:p.Arg24886Ser
ENST00000591111.5:c.96930A>C (TTN) ENSP00000465570.1:p.Arg32310Ser
ENST00000615779.4:c.96930A>C (TTN) ENSP00000483597.1:p.Arg32310Ser
XM_011511729.1:c.100950A>C (TTN) XP_011510031.1:p.Arg33650Ser
XM_011511730.1:c.74844A>C (TTN) XP_011510032.1:p.Arg24948Ser
XM_011511731.1:c.74703A>C (TTN) XP_011510033.1:p.Arg24901Ser
XM_017004819.1:c.100746A>C (TTN) XP_016860308.1:p.Arg33582Ser
XM_017004820.1:c.96144A>C (TTN) XP_016860309.1:p.Arg32048Ser
XM_017004821.1:c.96141A>C (TTN) XP_016860310.1:p.Arg32047Ser
XM_017004822.1:c.93183A>C (TTN) XP_016860311.1:p.Arg31061Ser
XM_017004823.1:c.74799A>C (TTN) XP_016860312.1:p.Arg24933Ser
XM_024453094.1:c.96294A>C (TTN) XP_024308862.1:p.Arg32098Ser
XM_024453095.1:c.96291A>C (TTN) XP_024308863.1:p.Arg32097Ser
XM_024453096.1:c.95724A>C (TTN) XP_024308864.1:p.Arg31908Ser
XM_024453097.1:c.93066A>C (TTN) XP_024308865.1:p.Arg31022Ser
XM_024453098.1:c.92985A>C (TTN) XP_024308866.1:p.Arg30995Ser
XM_024453099.1:c.74748A>C (TTN) XP_024308867.1:p.Arg24916Ser
XM_024453100.1:c.64602A>C (TTN) XP_024308868.1:p.Arg21534Ser