Canonical Allele Identifier: CA6919066

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs748322843
• ExAC: 13:25457313 C / T
• gnomAD v2: 13-25457313-C-T
• gnomAD v3: 13-24883175-C-T
• gnomAD v4: 13-24883175-C-T
• COSMIC: COSN21264572
• MyVariant Identifiers: chr13:g.25457313C>T (hg19) ; chr13:g.24883175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883175C>T , CM000675.2:g.24883175C>T	GRCh38
NC_000013.10:g.25457313C>T , CM000675.1:g.25457313C>T	GRCh37
NC_000013.9:g.24355313C>T	NCBI36
NG_009165.2:g.44773G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.*2G>A (CENPJ) MANE Select	ENSP00000371308.4:n.*2G>A
ENST00000545981.6:c.*759G>A (CENPJ)	ENSP00000441090.2:n.*759G>A
ENST00000381884.8:c.*2G>A (CENPJ)	ENSP00000371308.4:n.*2G>A
ENST00000545981.5:c.*760G>A (CENPJ)	ENSP00000441090.2:n.*760G>A
ENST00000616936.4:c.*673G>A (CENPJ)	ENSP00000477511.1:n.*673G>A
NM_018451.4:c.*2G>A (CENPJ)	NP_060921.3:n.*2G>A
NR_047594.1:n.4331G>A (CENPJ)
NR_047595.1:n.4129G>A (CENPJ)
XM_011535156.1:c.*10+3880C>T (RNF17)	XP_011533458.1:n.*10+3880C>T
XM_011535156.2:c.*10+3880C>T (RNF17)	XP_011533458.1:n.*10+3880C>T
NM_018451.5:c.*2G>A (CENPJ) MANE Select	NP_060921.3:n.*2G>A
NR_047594.2:n.4303G>A (CENPJ)
NR_047595.2:n.4101G>A (CENPJ)