Canonical Allele Identifier: CA174874

Gene: CBX7

Linked Data

• ClinVar Variation Id: 161834
• ClinVar RCV Id: RCV000149370
• dbSNP Id: rs193920857
• COSMIC: COSM1179910
• MyVariant Identifiers: chr22:g.39534660G>C (hg19) ; chr22:g.39138655G>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39138655G>C , CM000684.2:g.39138655G>C	GRCh38
NC_000022.10:g.39534660G>C , CM000684.1:g.39534660G>C	GRCh37
NC_000022.9:g.37864606G>C	NCBI36
NG_051974.1:g.18996C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216133.10:c.227C>G MANE Select	ENSP00000216133.5:p.Pro76Arg
ENST00000216133.9:c.227C>G	ENSP00000216133.5:p.Pro76Arg
ENST00000401405.7:c.227C>G	ENSP00000384035.3:p.Pro76Arg
ENST00000434260.1:c.161C>G	ENSP00000410896.1:p.Pro54Arg
ENST00000475962.5:n.44+11134C>G
NM_175709.3:c.227C>G	NP_783640.1:p.Pro76Arg
XM_005261413.3:c.227C>G	XP_005261470.1:p.Pro76Arg
XM_006724174.2:c.251C>G	XP_006724237.1:p.Pro84Arg
XM_006724175.2:c.251C>G	XP_006724238.1:p.Pro84Arg
XM_006724176.2:c.251C>G	XP_006724239.1:p.Pro84Arg
XM_006724177.2:c.227C>G	XP_006724240.1:p.Pro76Arg
XM_006724178.2:c.251C>G	XP_006724241.1:p.Pro84Arg
XM_011530025.1:c.251C>G	XP_011528327.1:p.Pro84Arg
NM_001346743.1:c.227C>G	NP_001333672.1:p.Pro76Arg
NM_001346744.1:c.227C>G	NP_001333673.1:p.Pro76Arg
NM_175709.4:c.227C>G	NP_783640.1:p.Pro76Arg
XM_006724174.4:c.251C>G	XP_006724237.1:p.Pro84Arg
XM_006724175.4:c.251C>G	XP_006724238.1:p.Pro84Arg
XM_006724176.4:c.251C>G	XP_006724239.1:p.Pro84Arg
XM_006724177.4:c.227C>G	XP_006724240.1:p.Pro76Arg
XM_006724178.4:c.251C>G	XP_006724241.1:p.Pro84Arg
XM_011530025.3:c.251C>G	XP_011528327.1:p.Pro84Arg
NM_175709.5:c.227C>G MANE Select	NP_783640.1:p.Pro76Arg
NM_001346743.2:c.227C>G	NP_001333672.1:p.Pro76Arg
NM_001346744.2:c.227C>G	NP_001333673.1:p.Pro76Arg