Canonical Allele Identifier: CA387594652

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24883281C>G , CM000675.2:g.24883281C>G GRCh38
NC_000013.10:g.25457419C>G , CM000675.1:g.25457419C>G GRCh37
NC_000013.9:g.24355419C>G NCBI36
NG_009165.2:g.44667G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.3913G>C (CENPJ) MANE Select ENSP00000371308.4:p.Val1305Leu
ENST00000545981.6:c.*653G>C (CENPJ) ENSP00000441090.2:n.*653G>C
ENST00000381884.8:c.3913G>C (CENPJ) ENSP00000371308.4:p.Val1305Leu
ENST00000545981.5:c.*654G>C (CENPJ) ENSP00000441090.2:n.*654G>C
ENST00000616936.4:c.*567G>C (CENPJ) ENSP00000477511.1:n.*567G>C
NM_018451.4:c.3913G>C (CENPJ) NP_060921.3:p.Val1305Leu
NR_047594.1:n.4225G>C (CENPJ)
NR_047595.1:n.4023G>C (CENPJ)
XM_011535156.1:c.*10+3986C>G (RNF17) XP_011533458.1:n.*10+3986C>G
XM_011535156.2:c.*10+3986C>G (RNF17) XP_011533458.1:n.*10+3986C>G
NM_018451.5:c.3913G>C (CENPJ) MANE Select NP_060921.3:p.Val1305Leu
NR_047594.2:n.4197G>C (CENPJ)
NR_047595.2:n.3995G>C (CENPJ)