Canonical Allele Identifier: CA2242262

Gene: BRPF1

Linked Data

• dbSNP Id: rs762911507
• ExAC: 3:9786715 G / A
• gnomAD v2: 3-9786715-G-A
• gnomAD v3: 3-9745031-G-A
• gnomAD v4: 3-9745031-G-A
• MyVariant Identifiers: chr3:g.9786715G>A (hg19) ; chr3:g.9745031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9745031G>A , CM000665.2:g.9745031G>A	GRCh38
NC_000003.11:g.9786715G>A , CM000665.1:g.9786715G>A	GRCh37
NC_000003.10:g.9761715G>A	NCBI36
NG_012106.1:g.88G>A
NG_052955.1:g.18303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424362.7:c.2941G>A	ENSP00000398863.2:p.Gly981Ser
ENST00000457855.2:c.2923G>A	ENSP00000410210.2:p.Gly975Ser
ENST00000497565.3:n.1563G>A
ENST00000672126.2:c.*558G>A	ENSP00000500718.1:n.*558G>A
ENST00000672515.2:c.2941G>A	ENSP00000499951.2:p.Gly981Ser
ENST00000673551.2:c.*1067G>A	ENSP00000500672.1:n.*1067G>A
ENST00000682208.1:c.2923G>A	ENSP00000508123.1:p.Gly975Ser
ENST00000682980.1:c.2656G>A	ENSP00000508198.1:p.Gly886Ser
ENST00000683423.1:c.*431G>A	ENSP00000507659.1:n.*431G>A
ENST00000683639.1:c.2926G>A	ENSP00000506903.1:p.Gly976Ser
ENST00000683743.1:c.2926G>A	ENSP00000507469.1:p.Gly976Ser
ENST00000684199.1:c.2944G>A	ENSP00000506921.1:p.Gly982Ser
ENST00000684206.1:c.2638G>A	ENSP00000507148.1:p.Gly880Ser
ENST00000684333.1:c.2923G>A	ENSP00000508256.1:p.Gly975Ser
ENST00000684573.1:c.663G>A
ENST00000684608.1:c.*1070G>A	ENSP00000507969.1:n.*1070G>A
ENST00000383829.7:c.2944G>A MANE Select	ENSP00000373340.2:p.Gly982Ser
ENST00000424362.6:c.2923G>A	ENSP00000398863.1:p.Gly975Ser
ENST00000497565.2:n.1563G>A
ENST00000672126.1:c.2859G>A	ENSP00000500718.1:n.2859G>A
ENST00000672515.1:c.2918G>A
ENST00000673551.1:c.*1067G>A	ENSP00000500672.1:n.*1067G>A
ENST00000383829.6:c.2944G>A	ENSP00000373340.2:p.Gly982Ser
ENST00000424362.5:c.2923G>A	ENSP00000398863.1:p.Gly975Ser
ENST00000433861.6:c.2641G>A	ENSP00000402485.2:p.Gly881Ser
ENST00000457855.1:c.2926G>A	ENSP00000410210.1:p.Gly976Ser
NM_001003694.1:c.2944G>A	NP_001003694.1:p.Gly982Ser
NM_004634.2:c.2926G>A	NP_004625.2:p.Gly976Ser
XM_005265449.1:c.2923G>A	XP_005265506.1:p.Gly975Ser
XM_005265450.1:c.2941G>A	XP_005265507.1:p.Gly981Ser
XM_005265451.1:c.2923G>A	XP_005265508.1:p.Gly975Ser
XM_005265452.1:c.2659G>A	XP_005265509.1:p.Gly887Ser
XM_005265453.1:c.2641G>A	XP_005265510.1:p.Gly881Ser
XM_011534101.1:c.2926G>A	XP_011532403.1:p.Gly976Ser
XM_011534102.1:c.2926G>A	XP_011532404.1:p.Gly976Ser
NM_001319049.1:c.2641G>A	NP_001305978.1:p.Gly881Ser
NM_001319050.1:c.2923G>A	NP_001305979.1:p.Gly975Ser
XM_024453741.1:c.2944G>A	XP_024309509.1:p.Gly982Ser
XM_024453742.1:c.2944G>A	XP_024309510.1:p.Gly982Ser
XM_024453743.1:c.2941G>A	XP_024309511.1:p.Gly981Ser
XM_024453744.1:c.2659G>A	XP_024309512.1:p.Gly887Ser
XR_001740257.1:n.3279G>A
XR_001740258.1:n.3533G>A
NM_001003694.2:c.2944G>A MANE Select	NP_001003694.1:p.Gly982Ser
NR_160918.1:n.3527G>A
NM_001319049.2:c.2641G>A	NP_001305978.1:p.Gly881Ser
NM_001319050.2:c.2923G>A	NP_001305979.1:p.Gly975Ser
NM_004634.3:c.2926G>A	NP_004625.2:p.Gly976Ser