Canonical Allele Identifier: CA6919209

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 261032
• ClinVar RCV Id: RCV000241956 ; RCV000331145 ; RCV000383392
• dbSNP Id: rs527997591
• ExAC: 13:25458395 C / A
• gnomAD v2: 13-25458395-C-A
• gnomAD v3: 13-24884257-C-A
• gnomAD v4: 13-24884257-C-A
• MyVariant Identifiers: chr13:g.25458395C>A (hg19) ; chr13:g.24884257C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24884257C>A , CM000675.2:g.24884257C>A	GRCh38
NC_000013.10:g.25458395C>A , CM000675.1:g.25458395C>A	GRCh37
NC_000013.9:g.24356395C>A	NCBI36
NG_009165.2:g.43691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.3619-12G>T (CENPJ) MANE Select	ENSP00000371308.4:n.3619-12G>T
ENST00000545981.6:c.*359-12G>T (CENPJ)	ENSP00000441090.2:n.*359-12G>T
ENST00000381884.8:c.3619-12G>T (CENPJ)	ENSP00000371308.4:n.3619-12G>T
ENST00000545981.5:c.*360-12G>T (CENPJ)	ENSP00000441090.2:n.*360-12G>T
ENST00000616936.4:c.*273-12G>T (CENPJ)	ENSP00000477511.1:n.*273-12G>T
NM_018451.4:c.3619-12G>T (CENPJ)	NP_060921.3:n.3619-12G>T
NR_047594.1:n.3931-12G>T (CENPJ)
NR_047595.1:n.3729-12G>T (CENPJ)
XM_011535156.1:c.*11-3857C>A (RNF17)	XP_011533458.1:n.*11-3857C>A
XM_011535156.2:c.*11-3857C>A (RNF17)	XP_011533458.1:n.*11-3857C>A
NM_018451.5:c.3619-12G>T (CENPJ) MANE Select	NP_060921.3:n.3619-12G>T
NR_047594.2:n.3903-12G>T (CENPJ)
NR_047595.2:n.3701-12G>T (CENPJ)