Canonical Allele Identifier: CA351685065
Gene: BRPF1 HGNC NCBI

Linked Data

gnomAD v4: 3-9739201-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9739201G>A , CM000665.2:g.9739201G>A GRCh38
NC_000003.11:g.9780885G>A , CM000665.1:g.9780885G>A GRCh37
NC_000003.10:g.9755885G>A NCBI36
NG_052955.1:g.12473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420291.3:c.802G>A ENSP00000416728.3:p.Ala268Thr
ENST00000424362.7:c.802G>A ENSP00000398863.2:p.Ala268Thr
ENST00000426583.2:c.802G>A ENSP00000404235.2:p.Ala268Thr
ENST00000457855.2:c.802G>A ENSP00000410210.2:p.Ala268Thr
ENST00000672126.2:c.802G>A ENSP00000500718.1:p.Ala268Thr
ENST00000672515.2:c.802G>A ENSP00000499951.2:p.Ala268Thr
ENST00000673551.2:c.802G>A ENSP00000500672.1:p.Ala268Thr
ENST00000682208.1:c.802G>A ENSP00000508123.1:p.Ala268Thr
ENST00000682980.1:c.802G>A ENSP00000508198.1:p.Ala268Thr
ENST00000683423.1:c.802G>A ENSP00000507659.1:p.Ala268Thr
ENST00000683639.1:c.802G>A ENSP00000506903.1:p.Ala268Thr
ENST00000683743.1:c.802G>A ENSP00000507469.1:p.Ala268Thr
ENST00000684199.1:c.802G>A ENSP00000506921.1:p.Ala268Thr
ENST00000684206.1:c.802G>A ENSP00000507148.1:p.Ala268Thr
ENST00000684223.1:c.802G>A ENSP00000506789.1:p.Ala268Thr
ENST00000684333.1:c.802G>A ENSP00000508256.1:p.Ala268Thr
ENST00000684608.1:c.802G>A ENSP00000507969.1:p.Ala268Thr
ENST00000383829.7:c.802G>A MANE Select ENSP00000373340.2:p.Ala268Thr
ENST00000424362.6:c.802G>A ENSP00000398863.1:p.Ala268Thr
ENST00000672126.1:c.802G>A ENSP00000500718.1:p.Ala268Thr
ENST00000672515.1:c.794G>A
ENST00000673551.1:c.802G>A ENSP00000500672.1:p.Ala268Thr
ENST00000383829.6:c.802G>A ENSP00000373340.2:p.Ala268Thr
ENST00000424362.5:c.802G>A ENSP00000398863.1:p.Ala268Thr
ENST00000433861.6:c.802G>A ENSP00000402485.2:p.Ala268Thr
ENST00000457855.1:c.802G>A ENSP00000410210.1:p.Ala268Thr
NM_001003694.1:c.802G>A NP_001003694.1:p.Ala268Thr
NM_004634.2:c.802G>A NP_004625.2:p.Ala268Thr
XM_005265449.1:c.802G>A XP_005265506.1:p.Ala268Thr
XM_005265450.1:c.802G>A XP_005265507.1:p.Ala268Thr
XM_005265451.1:c.802G>A XP_005265508.1:p.Ala268Thr
XM_005265452.1:c.802G>A XP_005265509.1:p.Ala268Thr
XM_005265453.1:c.802G>A XP_005265510.1:p.Ala268Thr
XM_005265454.1:c.802G>A XP_005265511.1:p.Ala268Thr
XM_011534101.1:c.802G>A XP_011532403.1:p.Ala268Thr
XM_011534102.1:c.802G>A XP_011532404.1:p.Ala268Thr
NM_001319049.1:c.802G>A NP_001305978.1:p.Ala268Thr
NM_001319050.1:c.802G>A NP_001305979.1:p.Ala268Thr
XM_024453741.1:c.802G>A XP_024309509.1:p.Ala268Thr
XM_024453742.1:c.802G>A XP_024309510.1:p.Ala268Thr
XM_024453743.1:c.802G>A XP_024309511.1:p.Ala268Thr
XM_024453744.1:c.802G>A XP_024309512.1:p.Ala268Thr
XR_001740257.1:n.1222G>A
XR_001740258.1:n.1222G>A
NM_001003694.2:c.802G>A MANE Select NP_001003694.1:p.Ala268Thr
NR_160918.1:n.1216G>A
NM_001319049.2:c.802G>A NP_001305978.1:p.Ala268Thr
NM_001319050.2:c.802G>A NP_001305979.1:p.Ala268Thr
NM_004634.3:c.802G>A NP_004625.2:p.Ala268Thr