Canonical Allele Identifier: CA247081109

Gene: CENPJ

Linked Data

• dbSNP Id: rs370900407
• gnomAD v2: 13-25479723-G-A
• gnomAD v4: 13-24905585-G-A
• MyVariant Identifiers: chr13:g.25479723G>A (hg19) ; chr13:g.24905585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24905585G>A , CM000675.2:g.24905585G>A	GRCh38
NC_000013.10:g.25479723G>A , CM000675.1:g.25479723G>A	GRCh37
NC_000013.9:g.24377723G>A	NCBI36
NG_009165.2:g.22363C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381884.9:c.2453C>T MANE Select	ENSP00000371308.4:p.Thr818Ile
ENST00000545981.6:c.2453C>T	ENSP00000441090.2:p.Thr818Ile
ENST00000381884.8:c.2453C>T	ENSP00000371308.4:p.Thr818Ile
ENST00000545981.5:c.2453C>T	ENSP00000441090.2:p.Thr818Ile
ENST00000616936.4:c.2453C>T	ENSP00000477511.1:p.Thr818Ile
NM_018451.4:c.2453C>T	NP_060921.3:p.Thr818Ile
NR_047594.1:n.2648C>T
NR_047595.1:n.2648C>T
XM_011535149.1:c.2453C>T	XP_011533451.1:p.Thr818Ile
XM_011535150.1:c.2453C>T	XP_011533452.1:p.Thr818Ile
XM_011535151.1:c.2453C>T	XP_011533453.1:p.Thr818Ile
XR_941627.1:n.2648C>T
XR_941628.1:n.2648C>T
XM_011535149.2:c.2453C>T	XP_011533451.1:p.Thr818Ile
XM_011535150.2:c.2453C>T	XP_011533452.1:p.Thr818Ile
XM_017020673.1:c.2453C>T	XP_016876162.1:p.Thr818Ile
NM_018451.5:c.2453C>T MANE Select	NP_060921.3:p.Thr818Ile
NR_047594.2:n.2620C>T
NR_047595.2:n.2620C>T