Canonical Allele Identifier: CA240944

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 194776
• ClinVar RCV Id: RCV000175220 ; RCV000300908 ; RCV000353449 ; RCV002517682
• dbSNP Id: rs140564566
• ExAC: 13:25457410 C / T
• gnomAD v2: 13-25457410-C-T
• gnomAD v3: 13-24883272-C-T
• gnomAD v4: 13-24883272-C-T
• MyVariant Identifiers: chr13:g.25457410C>T (hg19) ; chr13:g.24883272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883272C>T , CM000675.2:g.24883272C>T	GRCh38
NC_000013.10:g.25457410C>T , CM000675.1:g.25457410C>T	GRCh37
NC_000013.9:g.24355410C>T	NCBI36
NG_009165.2:g.44676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.3922G>A (CENPJ) MANE Select	ENSP00000371308.4:p.Val1308Ile
ENST00000545981.6:c.*662G>A (CENPJ)	ENSP00000441090.2:n.*662G>A
ENST00000381884.8:c.3922G>A (CENPJ)	ENSP00000371308.4:p.Val1308Ile
ENST00000545981.5:c.*663G>A (CENPJ)	ENSP00000441090.2:n.*663G>A
ENST00000616936.4:c.*576G>A (CENPJ)	ENSP00000477511.1:n.*576G>A
NM_018451.4:c.3922G>A (CENPJ)	NP_060921.3:p.Val1308Ile
NR_047594.1:n.4234G>A (CENPJ)
NR_047595.1:n.4032G>A (CENPJ)
XM_011535156.1:c.*10+3977C>T (RNF17)	XP_011533458.1:n.*10+3977C>T
XM_011535156.2:c.*10+3977C>T (RNF17)	XP_011533458.1:n.*10+3977C>T
NM_018451.5:c.3922G>A (CENPJ) MANE Select	NP_060921.3:p.Val1308Ile
NR_047594.2:n.4206G>A (CENPJ)
NR_047595.2:n.4004G>A (CENPJ)