Canonical Allele Identifier: CA482981563

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 794474
• ClinVar RCV Id: RCV000977731
• dbSNP Id: rs1593524570
• gnomAD v4: 13-24883261-G-A
• MyVariant Identifiers: chr13:g.25457399G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883261G>A , CM000675.2:g.24883261G>A	GRCh38
NC_000013.10:g.25457399G>A , CM000675.1:g.25457399G>A	GRCh37
NC_000013.9:g.24355399G>A	NCBI36
NG_009165.2:g.44687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.3933C>T (CENPJ) MANE Select	ENSP00000371308.4:p.Asn1311=
ENST00000545981.6:c.*673C>T (CENPJ)	ENSP00000441090.2:n.*673C>T
ENST00000381884.8:c.3933C>T (CENPJ)	ENSP00000371308.4:p.Asn1311=
ENST00000545981.5:c.*674C>T (CENPJ)	ENSP00000441090.2:n.*674C>T
ENST00000616936.4:c.*587C>T (CENPJ)	ENSP00000477511.1:n.*587C>T
NM_018451.4:c.3933C>T (CENPJ)	NP_060921.3:p.Asn1311=
NR_047594.1:n.4245C>T (CENPJ)
NR_047595.1:n.4043C>T (CENPJ)
XM_011535156.1:c.*10+3966G>A (RNF17)	XP_011533458.1:n.*10+3966G>A
XM_011535156.2:c.*10+3966G>A (RNF17)	XP_011533458.1:n.*10+3966G>A
NM_018451.5:c.3933C>T (CENPJ) MANE Select	NP_060921.3:p.Asn1311=
NR_047594.2:n.4217C>T (CENPJ)
NR_047595.2:n.4015C>T (CENPJ)