Canonical Allele Identifier: CA6919095

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs747918711
• ExAC: 13:25457402 T / G
• gnomAD v2: 13-25457402-T-G
• gnomAD v4: 13-24883264-T-G
• MyVariant Identifiers: chr13:g.25457402T>G (hg19) ; chr13:g.24883264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883264T>G , CM000675.2:g.24883264T>G	GRCh38
NC_000013.10:g.25457402T>G , CM000675.1:g.25457402T>G	GRCh37
NC_000013.9:g.24355402T>G	NCBI36
NG_009165.2:g.44684A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.3930A>C (CENPJ) MANE Select	ENSP00000371308.4:p.Ala1310=
ENST00000545981.6:c.*670A>C (CENPJ)	ENSP00000441090.2:n.*670A>C
ENST00000381884.8:c.3930A>C (CENPJ)	ENSP00000371308.4:p.Ala1310=
ENST00000545981.5:c.*671A>C (CENPJ)	ENSP00000441090.2:n.*671A>C
ENST00000616936.4:c.*584A>C (CENPJ)	ENSP00000477511.1:n.*584A>C
NM_018451.4:c.3930A>C (CENPJ)	NP_060921.3:p.Ala1310=
NR_047594.1:n.4242A>C (CENPJ)
NR_047595.1:n.4040A>C (CENPJ)
XM_011535156.1:c.*10+3969T>G (RNF17)	XP_011533458.1:n.*10+3969T>G
XM_011535156.2:c.*10+3969T>G (RNF17)	XP_011533458.1:n.*10+3969T>G
NM_018451.5:c.3930A>C (CENPJ) MANE Select	NP_060921.3:p.Ala1310=
NR_047594.2:n.4214A>C (CENPJ)
NR_047595.2:n.4012A>C (CENPJ)