Canonical Allele Identifier: CA387594507

Gene: CENPJ RNF17

Linked Data

• ClinVar Variation Id: 1434413
• ClinVar RCV Id: RCV001946317
• dbSNP Id: rs1953913166
• MyVariant Identifiers: chr13:g.25457350T>A (hg19) ; chr13:g.24883212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883212T>A , CM000675.2:g.24883212T>A	GRCh38
NC_000013.10:g.25457350T>A , CM000675.1:g.25457350T>A	GRCh37
NC_000013.9:g.24355350T>A	NCBI36
NG_009165.2:g.44736A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.3982A>T (CENPJ) MANE Select	ENSP00000371308.4:p.Lys1328Ter
ENST00000545981.6:c.*722A>T (CENPJ)	ENSP00000441090.2:n.*722A>T
ENST00000381884.8:c.3982A>T (CENPJ)	ENSP00000371308.4:p.Lys1328Ter
ENST00000545981.5:c.*723A>T (CENPJ)	ENSP00000441090.2:n.*723A>T
ENST00000616936.4:c.*636A>T (CENPJ)	ENSP00000477511.1:n.*636A>T
NM_018451.4:c.3982A>T (CENPJ)	NP_060921.3:p.Lys1328Ter
NR_047594.1:n.4294A>T (CENPJ)
NR_047595.1:n.4092A>T (CENPJ)
XM_011535156.1:c.*10+3917T>A (RNF17)	XP_011533458.1:n.*10+3917T>A
XM_011535156.2:c.*10+3917T>A (RNF17)	XP_011533458.1:n.*10+3917T>A
NM_018451.5:c.3982A>T (CENPJ) MANE Select	NP_060921.3:p.Lys1328Ter
NR_047594.2:n.4266A>T (CENPJ)
NR_047595.2:n.4064A>T (CENPJ)