Canonical Allele Identifier: CA247124285

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs146300947
• MyVariant Identifiers: chr13:g.25457384C>G (hg19) ; chr13:g.24883246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883246C>G , CM000675.2:g.24883246C>G	GRCh38
NC_000013.10:g.25457384C>G , CM000675.1:g.25457384C>G	GRCh37
NC_000013.9:g.24355384C>G	NCBI36
NG_009165.2:g.44702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.3948G>C (CENPJ) MANE Select	ENSP00000371308.4:p.Thr1316=
ENST00000545981.6:c.*688G>C (CENPJ)	ENSP00000441090.2:n.*688G>C
ENST00000381884.8:c.3948G>C (CENPJ)	ENSP00000371308.4:p.Thr1316=
ENST00000545981.5:c.*689G>C (CENPJ)	ENSP00000441090.2:n.*689G>C
ENST00000616936.4:c.*602G>C (CENPJ)	ENSP00000477511.1:n.*602G>C
NM_018451.4:c.3948G>C (CENPJ)	NP_060921.3:p.Thr1316=
NR_047594.1:n.4260G>C (CENPJ)
NR_047595.1:n.4058G>C (CENPJ)
XM_011535156.1:c.*10+3951C>G (RNF17)	XP_011533458.1:n.*10+3951C>G
XM_011535156.2:c.*10+3951C>G (RNF17)	XP_011533458.1:n.*10+3951C>G
NM_018451.5:c.3948G>C (CENPJ) MANE Select	NP_060921.3:p.Thr1316=
NR_047594.2:n.4232G>C (CENPJ)
NR_047595.2:n.4030G>C (CENPJ)