Canonical Allele Identifier: CA387594443

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24883181A>C , CM000675.2:g.24883181A>C GRCh38
NC_000013.10:g.25457319A>C , CM000675.1:g.25457319A>C GRCh37
NC_000013.9:g.24355319A>C NCBI36
NG_009165.2:g.44767T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381884.9:c.4013T>G (CENPJ) MANE Select ENSP00000371308.4:p.Leu1338Arg
ENST00000545981.6:c.*753T>G (CENPJ) ENSP00000441090.2:n.*753T>G
ENST00000381884.8:c.4013T>G (CENPJ) ENSP00000371308.4:p.Leu1338Arg
ENST00000545981.5:c.*754T>G (CENPJ) ENSP00000441090.2:n.*754T>G
ENST00000616936.4:c.*667T>G (CENPJ) ENSP00000477511.1:n.*667T>G
NM_018451.4:c.4013T>G (CENPJ) NP_060921.3:p.Leu1338Arg
NR_047594.1:n.4325T>G (CENPJ)
NR_047595.1:n.4123T>G (CENPJ)
XM_011535156.1:c.*10+3886A>C (RNF17) XP_011533458.1:n.*10+3886A>C
XM_011535156.2:c.*10+3886A>C (RNF17) XP_011533458.1:n.*10+3886A>C
NM_018451.5:c.4013T>G (CENPJ) MANE Select NP_060921.3:p.Leu1338Arg
NR_047594.2:n.4297T>G (CENPJ)
NR_047595.2:n.4095T>G (CENPJ)