Canonical Allele Identifier: CA351702643

Gene: BRPF1

Linked Data

• gnomAD v4: 3-9745020-A-C
• MyVariant Identifiers: chr3:g.9786704A>C (hg19) ; chr3:g.9745020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9745020A>C , CM000665.2:g.9745020A>C	GRCh38
NC_000003.11:g.9786704A>C , CM000665.1:g.9786704A>C	GRCh37
NC_000003.10:g.9761704A>C	NCBI36
NG_012106.1:g.77A>C
NG_052955.1:g.18292A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424362.7:c.2930A>C	ENSP00000398863.2:p.Asn977Thr
ENST00000457855.2:c.2912A>C	ENSP00000410210.2:p.Asn971Thr
ENST00000497565.3:n.1552A>C
ENST00000672126.2:c.*547A>C	ENSP00000500718.1:n.*547A>C
ENST00000672515.2:c.2930A>C	ENSP00000499951.2:p.Asn977Thr
ENST00000673551.2:c.*1056A>C	ENSP00000500672.1:n.*1056A>C
ENST00000682208.1:c.2912A>C	ENSP00000508123.1:p.Asn971Thr
ENST00000682980.1:c.2645A>C	ENSP00000508198.1:p.Asn882Thr
ENST00000683423.1:c.*420A>C	ENSP00000507659.1:n.*420A>C
ENST00000683639.1:c.2915A>C	ENSP00000506903.1:p.Asn972Thr
ENST00000683743.1:c.2915A>C	ENSP00000507469.1:p.Asn972Thr
ENST00000684199.1:c.2933A>C	ENSP00000506921.1:p.Asn978Thr
ENST00000684206.1:c.2627A>C	ENSP00000507148.1:p.Asn876Thr
ENST00000684333.1:c.2912A>C	ENSP00000508256.1:p.Asn971Thr
ENST00000684573.1:c.652A>C
ENST00000684608.1:c.*1059A>C	ENSP00000507969.1:n.*1059A>C
ENST00000383829.7:c.2933A>C MANE Select	ENSP00000373340.2:p.Asn978Thr
ENST00000424362.6:c.2912A>C	ENSP00000398863.1:p.Asn971Thr
ENST00000497565.2:n.1552A>C
ENST00000672126.1:c.2848A>C	ENSP00000500718.1:n.2848A>C
ENST00000672515.1:c.2907A>C
ENST00000673551.1:c.*1056A>C	ENSP00000500672.1:n.*1056A>C
ENST00000383829.6:c.2933A>C	ENSP00000373340.2:p.Asn978Thr
ENST00000424362.5:c.2912A>C	ENSP00000398863.1:p.Asn971Thr
ENST00000433861.6:c.2630A>C	ENSP00000402485.2:p.Asn877Thr
ENST00000457855.1:c.2915A>C	ENSP00000410210.1:p.Asn972Thr
NM_001003694.1:c.2933A>C	NP_001003694.1:p.Asn978Thr
NM_004634.2:c.2915A>C	NP_004625.2:p.Asn972Thr
XM_005265449.1:c.2912A>C	XP_005265506.1:p.Asn971Thr
XM_005265450.1:c.2930A>C	XP_005265507.1:p.Asn977Thr
XM_005265451.1:c.2912A>C	XP_005265508.1:p.Asn971Thr
XM_005265452.1:c.2648A>C	XP_005265509.1:p.Asn883Thr
XM_005265453.1:c.2630A>C	XP_005265510.1:p.Asn877Thr
XM_011534101.1:c.2915A>C	XP_011532403.1:p.Asn972Thr
XM_011534102.1:c.2915A>C	XP_011532404.1:p.Asn972Thr
NM_001319049.1:c.2630A>C	NP_001305978.1:p.Asn877Thr
NM_001319050.1:c.2912A>C	NP_001305979.1:p.Asn971Thr
XM_024453741.1:c.2933A>C	XP_024309509.1:p.Asn978Thr
XM_024453742.1:c.2933A>C	XP_024309510.1:p.Asn978Thr
XM_024453743.1:c.2930A>C	XP_024309511.1:p.Asn977Thr
XM_024453744.1:c.2648A>C	XP_024309512.1:p.Asn883Thr
XR_001740257.1:n.3268A>C
XR_001740258.1:n.3522A>C
NM_001003694.2:c.2933A>C MANE Select	NP_001003694.1:p.Asn978Thr
NR_160918.1:n.3516A>C
NM_001319049.2:c.2630A>C	NP_001305978.1:p.Asn877Thr
NM_001319050.2:c.2912A>C	NP_001305979.1:p.Asn971Thr
NM_004634.3:c.2915A>C	NP_004625.2:p.Asn972Thr