Canonical Allele Identifier: CA1139663035

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 882726
• ClinVar RCV Id: RCV001112647 ; RCV001112646
• dbSNP Id: rs1953900248
• gnomAD v4: 13-24882861-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24882861C>T , CM000675.2:g.24882861C>T	GRCh38
NC_000013.10:g.25456999C>T , CM000675.1:g.25456999C>T	GRCh37
NC_000013.9:g.24354999C>T	NCBI36
NG_009165.2:g.45087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.*316G>A (CENPJ) MANE Select	ENSP00000371308.4:n.*316G>A
ENST00000616936.4:c.*987G>A (CENPJ)	ENSP00000477511.1:n.*987G>A
NM_018451.4:c.*316G>A (CENPJ)	NP_060921.3:n.*316G>A
NR_047594.1:n.4645G>A (CENPJ)
NR_047595.1:n.4443G>A (CENPJ)
XM_011535156.1:c.*10+3566C>T (RNF17)	XP_011533458.1:n.*10+3566C>T
XM_011535156.2:c.*10+3566C>T (RNF17)	XP_011533458.1:n.*10+3566C>T
NM_018451.5:c.*316G>A (CENPJ) MANE Select	NP_060921.3:n.*316G>A
NR_047594.2:n.4617G>A (CENPJ)
NR_047595.2:n.4415G>A (CENPJ)