Canonical Allele Identifier: CA61004608
Community Standard Title: NM_001267550.2(TTN):c.42684G>A (p.Glu14228=)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633675C>T , CM000664.2:g.178633675C>T GRCh38
NC_000002.11:g.179498402C>T , CM000664.1:g.179498402C>T GRCh37
NC_000002.10:g.179206647C>T NCBI36
NG_011618.3:g.202128G>A , LRG_391:g.202128G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42684G>A MANE Select NP_001254479.2:p.Glu14228=
ENST00000589042.5:c.42684G>A MANE Select ENSP00000467141.1:p.Glu14228=
NM_001256850.1:c.37761G>A NP_001243779.1:p.Glu12587=
NM_003319.4:c.15489G>A NP_003310.4:p.Glu5163=
NM_133378.4:c.34980G>A NP_596869.4:p.Glu11660=
NM_133432.3:c.15864G>A NP_597676.3:p.Glu5288=
NM_133437.4:c.16065G>A NP_597681.4:p.Glu5355=
ENST00000342175.10:c.16065G>A ENSP00000340554.6:p.Glu5355=
ENST00000342175.11:c.16065G>A ENSP00000340554.6:p.Glu5355=
ENST00000342992.10:c.34980G>A ENSP00000343764.6:p.Glu11660=
ENST00000342992.11:c.34980G>A ENSP00000343764.6:p.Glu11660=
ENST00000359218.10:c.15864G>A ENSP00000352154.5:p.Glu5288=
ENST00000359218.9:c.15864G>A ENSP00000352154.5:p.Glu5288=
ENST00000460472.6:c.15489G>A ENSP00000434586.1:p.Glu5163=
ENST00000591111.5:c.37761G>A ENSP00000465570.1:p.Glu12587=
ENST00000615779.4:c.37761G>A ENSP00000483597.1:p.Glu12587=
XM_011511729.1:c.41781G>A XP_011510031.1:p.Glu13927=
XM_011511730.1:c.15675G>A XP_011510032.1:p.Glu5225=
XM_011511731.1:c.15534G>A XP_011510033.1:p.Glu5178=
XM_017004819.1:c.41577G>A XP_016860308.1:p.Glu13859=
XM_017004820.1:c.36975G>A XP_016860309.1:p.Glu12325=
XM_017004821.1:c.36972G>A XP_016860310.1:p.Glu12324=
XM_017004822.1:c.34014G>A XP_016860311.1:p.Glu11338=
XM_017004823.1:c.15630G>A XP_016860312.1:p.Glu5210=
XM_024453094.1:c.37125G>A XP_024308862.1:p.Glu12375=
XM_024453095.1:c.37122G>A XP_024308863.1:p.Glu12374=
XM_024453096.1:c.36555G>A XP_024308864.1:p.Glu12185=
XM_024453097.1:c.33897G>A XP_024308865.1:p.Glu11299=
XM_024453098.1:c.33816G>A XP_024308866.1:p.Glu11272=
XM_024453099.1:c.15579G>A XP_024308867.1:p.Glu5193=
XM_024453100.1:c.5433G>A XP_024308868.1:p.Glu1811=