Canonical Allele Identifier: CA6919518
Community Standard Title: NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu)
Gene: CENPJ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24903966T>C , CM000675.2:g.24903966T>C GRCh38
NC_000013.10:g.25478104T>C , CM000675.1:g.25478104T>C GRCh37
NC_000013.9:g.24376104T>C NCBI36
NG_009165.2:g.23982A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018451.5:c.2785A>G MANE Select NP_060921.3:p.Lys929Glu
ENST00000381884.9:c.2785A>G MANE Select ENSP00000371308.4:p.Lys929Glu
NM_018451.4:c.2785A>G NP_060921.3:p.Lys929Glu
NR_047594.1:n.2980A>G
NR_047594.2:n.2952A>G
NR_047595.1:n.2980A>G
NR_047595.2:n.2952A>G
ENST00000381884.8:c.2785A>G ENSP00000371308.4:p.Lys929Glu
ENST00000418179.1:c.29A>G
ENST00000545981.5:c.2785A>G ENSP00000441090.2:p.Lys929Glu
ENST00000545981.6:c.2785A>G ENSP00000441090.2:p.Lys929Glu
ENST00000616936.4:c.2785A>G ENSP00000477511.1:p.Lys929Glu
XM_011535149.1:c.2785A>G XP_011533451.1:p.Lys929Glu
XM_011535149.2:c.2785A>G XP_011533451.1:p.Lys929Glu
XM_011535150.1:c.2785A>G XP_011533452.1:p.Lys929Glu
XM_011535150.2:c.2785A>G XP_011533452.1:p.Lys929Glu
XM_011535151.1:c.2785A>G XP_011533453.1:p.Lys929Glu
XM_017020673.1:c.2785A>G XP_016876162.1:p.Lys929Glu
XR_941627.1:n.2980A>G
XR_941628.1:n.2980A>G