Canonical Allele Identifier: CA351702840
Gene: BRPF1 HGNC NCBI

Linked Data

gnomAD v4: 3-9745076-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9745076G>T , CM000665.2:g.9745076G>T GRCh38
NC_000003.11:g.9786760G>T , CM000665.1:g.9786760G>T GRCh37
NC_000003.10:g.9761760G>T NCBI36
NG_012106.1:g.133G>T
NG_052955.1:g.18348G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000424362.7:c.2986G>T ENSP00000398863.2:p.Asp996Tyr
ENST00000457855.2:c.2968G>T ENSP00000410210.2:p.Asp990Tyr
ENST00000497565.3:n.1608G>T
ENST00000672126.2:c.*603G>T ENSP00000500718.1:n.*603G>T
ENST00000672515.2:c.2986G>T ENSP00000499951.2:p.Asp996Tyr
ENST00000673551.2:c.*1112G>T ENSP00000500672.1:n.*1112G>T
ENST00000682208.1:c.2968G>T ENSP00000508123.1:p.Asp990Tyr
ENST00000682980.1:c.2701G>T ENSP00000508198.1:p.Asp901Tyr
ENST00000683423.1:c.*476G>T ENSP00000507659.1:n.*476G>T
ENST00000683639.1:c.2971G>T ENSP00000506903.1:p.Asp991Tyr
ENST00000683743.1:c.2971G>T ENSP00000507469.1:p.Asp991Tyr
ENST00000684199.1:c.2989G>T ENSP00000506921.1:p.Asp997Tyr
ENST00000684206.1:c.2683G>T ENSP00000507148.1:p.Asp895Tyr
ENST00000684333.1:c.2968G>T ENSP00000508256.1:p.Asp990Tyr
ENST00000684573.1:c.708G>T
ENST00000684608.1:c.*1115G>T ENSP00000507969.1:n.*1115G>T
ENST00000383829.7:c.2989G>T MANE Select ENSP00000373340.2:p.Asp997Tyr
ENST00000424362.6:c.2968G>T ENSP00000398863.1:p.Asp990Tyr
ENST00000497565.2:n.1608G>T
ENST00000672126.1:c.2904G>T ENSP00000500718.1:n.2904G>T
ENST00000672515.1:c.2963G>T
ENST00000673551.1:c.*1112G>T ENSP00000500672.1:n.*1112G>T
ENST00000383829.6:c.2989G>T ENSP00000373340.2:p.Asp997Tyr
ENST00000424362.5:c.2968G>T ENSP00000398863.1:p.Asp990Tyr
ENST00000433861.6:c.2686G>T ENSP00000402485.2:p.Asp896Tyr
ENST00000457855.1:c.2971G>T ENSP00000410210.1:p.Asp991Tyr
ENST00000497565.1:n.33G>T
NM_001003694.1:c.2989G>T NP_001003694.1:p.Asp997Tyr
NM_004634.2:c.2971G>T NP_004625.2:p.Asp991Tyr
XM_005265449.1:c.2968G>T XP_005265506.1:p.Asp990Tyr
XM_005265450.1:c.2986G>T XP_005265507.1:p.Asp996Tyr
XM_005265451.1:c.2968G>T XP_005265508.1:p.Asp990Tyr
XM_005265452.1:c.2704G>T XP_005265509.1:p.Asp902Tyr
XM_005265453.1:c.2686G>T XP_005265510.1:p.Asp896Tyr
XM_011534101.1:c.2971G>T XP_011532403.1:p.Asp991Tyr
XM_011534102.1:c.2971G>T XP_011532404.1:p.Asp991Tyr
NM_001319049.1:c.2686G>T NP_001305978.1:p.Asp896Tyr
NM_001319050.1:c.2968G>T NP_001305979.1:p.Asp990Tyr
XM_024453741.1:c.2989G>T XP_024309509.1:p.Asp997Tyr
XM_024453742.1:c.2989G>T XP_024309510.1:p.Asp997Tyr
XM_024453743.1:c.2986G>T XP_024309511.1:p.Asp996Tyr
XM_024453744.1:c.2704G>T XP_024309512.1:p.Asp902Tyr
XR_001740257.1:n.3324G>T
XR_001740258.1:n.3578G>T
NM_001003694.2:c.2989G>T MANE Select NP_001003694.1:p.Asp997Tyr
NR_160918.1:n.3572G>T
NM_001319049.2:c.2686G>T NP_001305978.1:p.Asp896Tyr
NM_001319050.2:c.2968G>T NP_001305979.1:p.Asp990Tyr
NM_004634.3:c.2971G>T NP_004625.2:p.Asp991Tyr