Canonical Allele Identifier: CA6919060

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 881144
• ClinVar RCV Id: RCV001109964 ; RCV001109965
• dbSNP Id: rs372867684
• ExAC: 13:25457289 G / A
• gnomAD v2: 13-25457289-G-A
• gnomAD v3: 13-24883151-G-A
• gnomAD v4: 13-24883151-G-A
• MyVariant Identifiers: chr13:g.25457289G>A (hg19) ; chr13:g.24883151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883151G>A , CM000675.2:g.24883151G>A	GRCh38
NC_000013.10:g.25457289G>A , CM000675.1:g.25457289G>A	GRCh37
NC_000013.9:g.24355289G>A	NCBI36
NG_009165.2:g.44797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*26C>T (CENPJ) MANE Select	ENSP00000371308.4:n.*26C>T
ENST00000381884.8:c.*26C>T (CENPJ)	ENSP00000371308.4:n.*26C>T
ENST00000616936.4:c.*697C>T (CENPJ)	ENSP00000477511.1:n.*697C>T
NM_018451.4:c.*26C>T (CENPJ)	NP_060921.3:n.*26C>T
NR_047594.1:n.4355C>T (CENPJ)
NR_047595.1:n.4153C>T (CENPJ)
XM_011535156.1:c.*10+3856G>A (RNF17)	XP_011533458.1:n.*10+3856G>A
XM_011535156.2:c.*10+3856G>A (RNF17)	XP_011533458.1:n.*10+3856G>A
NM_018451.5:c.*26C>T (CENPJ) MANE Select	NP_060921.3:n.*26C>T
NR_047594.2:n.4327C>T (CENPJ)
NR_047595.2:n.4125C>T (CENPJ)