Canonical Allele Identifier: CA430267200
Community Standard Title: NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592587A>G , CM000664.2:g.178592587A>G GRCh38
NC_000002.11:g.179457314A>G , CM000664.1:g.179457314A>G GRCh37
NC_000002.10:g.179165560A>G NCBI36
NG_011618.3:g.243216T>C , LRG_391:g.243216T>C
NG_051363.1:g.74761A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.59418T>C (TTN) MANE Select NP_001254479.2:p.Leu19806=
ENST00000589042.5:c.59418T>C (TTN) MANE Select ENSP00000467141.1:p.Leu19806=
NM_001256850.1:c.54495T>C (TTN) NP_001243779.1:p.Leu18165=
NM_003319.4:c.32223T>C (TTN) NP_003310.4:p.Leu10741=
NM_133378.4:c.51714T>C (TTN) NP_596869.4:p.Leu17238=
NM_133432.3:c.32598T>C (TTN) NP_597676.3:p.Leu10866=
NM_133437.4:c.32799T>C (TTN) NP_597681.4:p.Leu10933=
NR_038271.1:n.597-5009A>G (TTN-AS1)
NR_038272.1:n.3364+1273A>G (TTN-AS1)
ENST00000342175.10:c.32799T>C (TTN) ENSP00000340554.6:p.Leu10933=
ENST00000342175.11:c.32799T>C (TTN) ENSP00000340554.6:p.Leu10933=
ENST00000342992.10:c.51714T>C (TTN) ENSP00000343764.6:p.Leu17238=
ENST00000342992.11:c.51714T>C (TTN) ENSP00000343764.6:p.Leu17238=
ENST00000359218.10:c.32598T>C (TTN) ENSP00000352154.5:p.Leu10866=
ENST00000359218.9:c.32598T>C (TTN) ENSP00000352154.5:p.Leu10866=
ENST00000460472.6:c.32223T>C (TTN) ENSP00000434586.1:p.Leu10741=
ENST00000591111.5:c.54495T>C (TTN) ENSP00000465570.1:p.Leu18165=
ENST00000615779.4:c.54495T>C (TTN) ENSP00000483597.1:p.Leu18165=
XM_011511729.1:c.58515T>C (TTN) XP_011510031.1:p.Leu19505=
XM_011511730.1:c.32409T>C (TTN) XP_011510032.1:p.Leu10803=
XM_011511731.1:c.32268T>C (TTN) XP_011510033.1:p.Leu10756=
XM_017004819.1:c.58311T>C (TTN) XP_016860308.1:p.Leu19437=
XM_017004820.1:c.53709T>C (TTN) XP_016860309.1:p.Leu17903=
XM_017004821.1:c.53706T>C (TTN) XP_016860310.1:p.Leu17902=
XM_017004822.1:c.50748T>C (TTN) XP_016860311.1:p.Leu16916=
XM_017004823.1:c.32364T>C (TTN) XP_016860312.1:p.Leu10788=
XM_024453094.1:c.53859T>C (TTN) XP_024308862.1:p.Leu17953=
XM_024453095.1:c.53856T>C (TTN) XP_024308863.1:p.Leu17952=
XM_024453096.1:c.53289T>C (TTN) XP_024308864.1:p.Leu17763=
XM_024453097.1:c.50631T>C (TTN) XP_024308865.1:p.Leu16877=
XM_024453098.1:c.50550T>C (TTN) XP_024308866.1:p.Leu16850=
XM_024453099.1:c.32313T>C (TTN) XP_024308867.1:p.Leu10771=
XM_024453100.1:c.22167T>C (TTN) XP_024308868.1:p.Leu7389=