Canonical Allele Identifier: CA351702822

Gene: BRPF1

Linked Data

• ClinVar Variation Id: 916258
• ClinVar RCV Id: RCV001171828
• dbSNP Id: rs2077100185
• gnomAD v4: 3-9745071-G-A
• COSMIC: COSM5994494
• MyVariant Identifiers: chr3:g.9786755G>A (hg19) ; chr3:g.9745071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9745071G>A , CM000665.2:g.9745071G>A	GRCh38
NC_000003.11:g.9786755G>A , CM000665.1:g.9786755G>A	GRCh37
NC_000003.10:g.9761755G>A	NCBI36
NG_012106.1:g.128G>A
NG_052955.1:g.18343G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000424362.7:c.2981G>A	ENSP00000398863.2:p.Arg994His
ENST00000457855.2:c.2963G>A	ENSP00000410210.2:p.Arg988His
ENST00000497565.3:n.1603G>A
ENST00000672126.2:c.*598G>A	ENSP00000500718.1:n.*598G>A
ENST00000672515.2:c.2981G>A	ENSP00000499951.2:p.Arg994His
ENST00000673551.2:c.*1107G>A	ENSP00000500672.1:n.*1107G>A
ENST00000682208.1:c.2963G>A	ENSP00000508123.1:p.Arg988His
ENST00000682980.1:c.2696G>A	ENSP00000508198.1:p.Arg899His
ENST00000683423.1:c.*471G>A	ENSP00000507659.1:n.*471G>A
ENST00000683639.1:c.2966G>A	ENSP00000506903.1:p.Arg989His
ENST00000683743.1:c.2966G>A	ENSP00000507469.1:p.Arg989His
ENST00000684199.1:c.2984G>A	ENSP00000506921.1:p.Arg995His
ENST00000684206.1:c.2678G>A	ENSP00000507148.1:p.Arg893His
ENST00000684333.1:c.2963G>A	ENSP00000508256.1:p.Arg988His
ENST00000684573.1:c.703G>A
ENST00000684608.1:c.*1110G>A	ENSP00000507969.1:n.*1110G>A
ENST00000383829.7:c.2984G>A MANE Select	ENSP00000373340.2:p.Arg995His
ENST00000424362.6:c.2963G>A	ENSP00000398863.1:p.Arg988His
ENST00000497565.2:n.1603G>A
ENST00000672126.1:c.2899G>A	ENSP00000500718.1:n.2899G>A
ENST00000672515.1:c.2958G>A
ENST00000673551.1:c.*1107G>A	ENSP00000500672.1:n.*1107G>A
ENST00000383829.6:c.2984G>A	ENSP00000373340.2:p.Arg995His
ENST00000424362.5:c.2963G>A	ENSP00000398863.1:p.Arg988His
ENST00000433861.6:c.2681G>A	ENSP00000402485.2:p.Arg894His
ENST00000457855.1:c.2966G>A	ENSP00000410210.1:p.Arg989His
ENST00000497565.1:n.28G>A
NM_001003694.1:c.2984G>A	NP_001003694.1:p.Arg995His
NM_004634.2:c.2966G>A	NP_004625.2:p.Arg989His
XM_005265449.1:c.2963G>A	XP_005265506.1:p.Arg988His
XM_005265450.1:c.2981G>A	XP_005265507.1:p.Arg994His
XM_005265451.1:c.2963G>A	XP_005265508.1:p.Arg988His
XM_005265452.1:c.2699G>A	XP_005265509.1:p.Arg900His
XM_005265453.1:c.2681G>A	XP_005265510.1:p.Arg894His
XM_011534101.1:c.2966G>A	XP_011532403.1:p.Arg989His
XM_011534102.1:c.2966G>A	XP_011532404.1:p.Arg989His
NM_001319049.1:c.2681G>A	NP_001305978.1:p.Arg894His
NM_001319050.1:c.2963G>A	NP_001305979.1:p.Arg988His
XM_024453741.1:c.2984G>A	XP_024309509.1:p.Arg995His
XM_024453742.1:c.2984G>A	XP_024309510.1:p.Arg995His
XM_024453743.1:c.2981G>A	XP_024309511.1:p.Arg994His
XM_024453744.1:c.2699G>A	XP_024309512.1:p.Arg900His
XR_001740257.1:n.3319G>A
XR_001740258.1:n.3573G>A
NM_001003694.2:c.2984G>A MANE Select	NP_001003694.1:p.Arg995His
NR_160918.1:n.3567G>A
NM_001319049.2:c.2681G>A	NP_001305978.1:p.Arg894His
NM_001319050.2:c.2963G>A	NP_001305979.1:p.Arg988His
NM_004634.3:c.2966G>A	NP_004625.2:p.Arg989His