Canonical Allele Identifier: CA387594601

Gene: CENPJ RNF17

Linked Data

• dbSNP Id: rs1228356239
• gnomAD v2: 13-25457395-G-A
• gnomAD v4: 13-24883257-G-A
• MyVariant Identifiers: chr13:g.25457395G>A (hg19) ; chr13:g.24883257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24883257G>A , CM000675.2:g.24883257G>A	GRCh38
NC_000013.10:g.25457395G>A , CM000675.1:g.25457395G>A	GRCh37
NC_000013.9:g.24355395G>A	NCBI36
NG_009165.2:g.44691C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.3937C>T (CENPJ) MANE Select	ENSP00000371308.4:p.His1313Tyr
ENST00000545981.6:c.*677C>T (CENPJ)	ENSP00000441090.2:n.*677C>T
ENST00000381884.8:c.3937C>T (CENPJ)	ENSP00000371308.4:p.His1313Tyr
ENST00000545981.5:c.*678C>T (CENPJ)	ENSP00000441090.2:n.*678C>T
ENST00000616936.4:c.*591C>T (CENPJ)	ENSP00000477511.1:n.*591C>T
NM_018451.4:c.3937C>T (CENPJ)	NP_060921.3:p.His1313Tyr
NR_047594.1:n.4249C>T (CENPJ)
NR_047595.1:n.4047C>T (CENPJ)
XM_011535156.1:c.*10+3962G>A (RNF17)	XP_011533458.1:n.*10+3962G>A
XM_011535156.2:c.*10+3962G>A (RNF17)	XP_011533458.1:n.*10+3962G>A
NM_018451.5:c.3937C>T (CENPJ) MANE Select	NP_060921.3:p.His1313Tyr
NR_047594.2:n.4221C>T (CENPJ)
NR_047595.2:n.4019C>T (CENPJ)