Canonical Allele Identifier: CA387584975

Gene: CENPJ

Linked Data

• dbSNP Id: rs1242595381
• gnomAD v2: 13-25479724-T-C
• gnomAD v4: 13-24905586-T-C
• MyVariant Identifiers: chr13:g.25479724T>C (hg19) ; chr13:g.24905586T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24905586T>C , CM000675.2:g.24905586T>C	GRCh38
NC_000013.10:g.25479724T>C , CM000675.1:g.25479724T>C	GRCh37
NC_000013.9:g.24377724T>C	NCBI36
NG_009165.2:g.22362A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.2452A>G MANE Select	ENSP00000371308.4:p.Thr818Ala
ENST00000545981.6:c.2452A>G	ENSP00000441090.2:p.Thr818Ala
ENST00000381884.8:c.2452A>G	ENSP00000371308.4:p.Thr818Ala
ENST00000545981.5:c.2452A>G	ENSP00000441090.2:p.Thr818Ala
ENST00000616936.4:c.2452A>G	ENSP00000477511.1:p.Thr818Ala
NM_018451.4:c.2452A>G	NP_060921.3:p.Thr818Ala
NR_047594.1:n.2647A>G
NR_047595.1:n.2647A>G
XM_011535149.1:c.2452A>G	XP_011533451.1:p.Thr818Ala
XM_011535150.1:c.2452A>G	XP_011533452.1:p.Thr818Ala
XM_011535151.1:c.2452A>G	XP_011533453.1:p.Thr818Ala
XR_941627.1:n.2647A>G
XR_941628.1:n.2647A>G
XM_011535149.2:c.2452A>G	XP_011533451.1:p.Thr818Ala
XM_011535150.2:c.2452A>G	XP_011533452.1:p.Thr818Ala
XM_017020673.1:c.2452A>G	XP_016876162.1:p.Thr818Ala
NM_018451.5:c.2452A>G MANE Select	NP_060921.3:p.Thr818Ala
NR_047594.2:n.2619A>G
NR_047595.2:n.2619A>G