Canonical Allele Identifier: CA249686

Gene: CENPJ

Linked Data

• ClinVar Variation Id: 210654
• ClinVar RCV Id: RCV000194381 ; RCV002517062 ; RCV002517063
• dbSNP Id: rs201088712
• ExAC: 13:25480913 C / G
• gnomAD v2: 13-25480913-C-G
• gnomAD v3: 13-24906775-C-G
• gnomAD v4: 13-24906775-C-G
• MyVariant Identifiers: chr13:g.25480913C>G (hg19) ; chr13:g.24906775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.24906775C>G , CM000675.2:g.24906775C>G	GRCh38
NC_000013.10:g.25480913C>G , CM000675.1:g.25480913C>G	GRCh37
NC_000013.9:g.24378913C>G	NCBI36
NG_009165.2:g.21173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381884.9:c.1263G>C MANE Select	ENSP00000371308.4:p.Gln421His
ENST00000545981.6:c.1263G>C	ENSP00000441090.2:p.Gln421His
ENST00000381884.8:c.1263G>C	ENSP00000371308.4:p.Gln421His
ENST00000545981.5:c.1263G>C	ENSP00000441090.2:p.Gln421His
ENST00000616936.4:c.1263G>C	ENSP00000477511.1:p.Gln421His
NM_018451.4:c.1263G>C	NP_060921.3:p.Gln421His
NR_047594.1:n.1458G>C
NR_047595.1:n.1458G>C
XM_011535149.1:c.1263G>C	XP_011533451.1:p.Gln421His
XM_011535150.1:c.1263G>C	XP_011533452.1:p.Gln421His
XM_011535151.1:c.1263G>C	XP_011533453.1:p.Gln421His
XR_941627.1:n.1458G>C
XR_941628.1:n.1458G>C
XM_011535149.2:c.1263G>C	XP_011533451.1:p.Gln421His
XM_011535150.2:c.1263G>C	XP_011533452.1:p.Gln421His
XM_017020673.1:c.1263G>C	XP_016876162.1:p.Gln421His
NM_018451.5:c.1263G>C MANE Select	NP_060921.3:p.Gln421His
NR_047594.2:n.1430G>C
NR_047595.2:n.1430G>C