Canonical Allele Identifier: CA387594558

Gene: CENPJ RNF17

Linked Data

• gnomAD v4: 13-24883238-C-A
• MyVariant Identifiers: chr13:g.25457376C>A (hg19) ; chr13:g.24883238C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883238C>A , CM000675.2:g.24883238C>A	GRCh38
NC_000013.10:g.25457376C>A , CM000675.1:g.25457376C>A	GRCh37
NC_000013.9:g.24355376C>A	NCBI36
NG_009165.2:g.44710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.3956G>T (CENPJ) MANE Select	ENSP00000371308.4:p.Arg1319Ile
ENST00000545981.6:c.*696G>T (CENPJ)	ENSP00000441090.2:n.*696G>T
ENST00000381884.8:c.3956G>T (CENPJ)	ENSP00000371308.4:p.Arg1319Ile
ENST00000545981.5:c.*697G>T (CENPJ)	ENSP00000441090.2:n.*697G>T
ENST00000616936.4:c.*610G>T (CENPJ)	ENSP00000477511.1:n.*610G>T
NM_018451.4:c.3956G>T (CENPJ)	NP_060921.3:p.Arg1319Ile
NR_047594.1:n.4268G>T (CENPJ)
NR_047595.1:n.4066G>T (CENPJ)
XM_011535156.1:c.*10+3943C>A (RNF17)	XP_011533458.1:n.*10+3943C>A
XM_011535156.2:c.*10+3943C>A (RNF17)	XP_011533458.1:n.*10+3943C>A
NM_018451.5:c.3956G>T (CENPJ) MANE Select	NP_060921.3:p.Arg1319Ile
NR_047594.2:n.4240G>T (CENPJ)
NR_047595.2:n.4038G>T (CENPJ)