Canonical Allele Identifier: CA10634091

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 311585
• ClinVar RCV Id: RCV000338334 ; RCV000400830
• dbSNP Id: rs886050092
• MyVariant Identifiers: chr13:g.25456532G>A (hg19) ; chr13:g.24882394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882394G>A , CM000675.2:g.24882394G>A	GRCh38
NC_000013.10:g.25456532G>A , CM000675.1:g.25456532G>A	GRCh37
NC_000013.9:g.24354532G>A	NCBI36
NG_009165.2:g.45554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*783C>T (CENPJ) MANE Select	ENSP00000371308.4:n.*783C>T
ENST00000616936.4:c.*1454C>T (CENPJ)	ENSP00000477511.1:n.*1454C>T
NM_018451.4:c.*783C>T (CENPJ)	NP_060921.3:n.*783C>T
NR_047594.1:n.5112C>T (CENPJ)
NR_047595.1:n.4910C>T (CENPJ)
XM_011535156.1:c.*10+3099G>A (RNF17)	XP_011533458.1:n.*10+3099G>A
XM_011535156.2:c.*10+3099G>A (RNF17)	XP_011533458.1:n.*10+3099G>A
NM_018451.5:c.*783C>T (CENPJ) MANE Select	NP_060921.3:n.*783C>T
NR_047594.2:n.5084C>T (CENPJ)
NR_047595.2:n.4882C>T (CENPJ)