Canonical Allele Identifier: CA346753
Community Standard Title: NM_001267550.2(TTN):c.45688G>A (p.Glu15230Lys)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620922C>T , CM000664.2:g.178620922C>T GRCh38
NC_000002.11:g.179485649C>T , CM000664.1:g.179485649C>T GRCh37
NC_000002.10:g.179193894C>T NCBI36
NG_011618.3:g.214881G>A , LRG_391:g.214881G>A
NG_051363.1:g.103096C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45688G>A MANE Select NP_001254479.2:p.Glu15230Lys
ENST00000589042.5:c.45688G>A MANE Select ENSP00000467141.1:p.Glu15230Lys
NM_001256850.1:c.40765G>A NP_001243779.1:p.Glu13589Lys
NM_003319.4:c.18493G>A NP_003310.4:p.Glu6165Lys
NM_133378.4:c.37984G>A NP_596869.4:p.Glu12662Lys
NM_133432.3:c.18868G>A NP_597676.3:p.Glu6290Lys
NM_133437.4:c.19069G>A NP_597681.4:p.Glu6357Lys
ENST00000342175.10:c.19069G>A ENSP00000340554.6:p.Glu6357Lys
ENST00000342175.11:c.19069G>A ENSP00000340554.6:p.Glu6357Lys
ENST00000342992.10:c.37984G>A ENSP00000343764.6:p.Glu12662Lys
ENST00000342992.11:c.37984G>A ENSP00000343764.6:p.Glu12662Lys
ENST00000359218.10:c.18868G>A ENSP00000352154.5:p.Glu6290Lys
ENST00000359218.9:c.18868G>A ENSP00000352154.5:p.Glu6290Lys
ENST00000460472.6:c.18493G>A ENSP00000434586.1:p.Glu6165Lys
ENST00000591111.5:c.40765G>A ENSP00000465570.1:p.Glu13589Lys
ENST00000615779.4:c.40765G>A ENSP00000483597.1:p.Glu13589Lys
XM_011511729.1:c.44785G>A XP_011510031.1:p.Glu14929Lys
XM_011511730.1:c.18679G>A XP_011510032.1:p.Glu6227Lys
XM_011511731.1:c.18538G>A XP_011510033.1:p.Glu6180Lys
XM_017004819.1:c.44581G>A XP_016860308.1:p.Glu14861Lys
XM_017004820.1:c.39979G>A XP_016860309.1:p.Glu13327Lys
XM_017004821.1:c.39976G>A XP_016860310.1:p.Glu13326Lys
XM_017004822.1:c.37018G>A XP_016860311.1:p.Glu12340Lys
XM_017004823.1:c.18634G>A XP_016860312.1:p.Glu6212Lys
XM_024453094.1:c.40129G>A XP_024308862.1:p.Glu13377Lys
XM_024453095.1:c.40126G>A XP_024308863.1:p.Glu13376Lys
XM_024453096.1:c.39559G>A XP_024308864.1:p.Glu13187Lys
XM_024453097.1:c.36901G>A XP_024308865.1:p.Glu12301Lys
XM_024453098.1:c.36820G>A XP_024308866.1:p.Glu12274Lys
XM_024453099.1:c.18583G>A XP_024308867.1:p.Glu6195Lys
XM_024453100.1:c.8437G>A XP_024308868.1:p.Glu2813Lys