Canonical Allele Identifier: CA10026467
Community Standard Title: NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)
Gene: BRWD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39198843T>A , CM000683.2:g.39198843T>A GRCh38
NC_000021.8:g.40570769T>A , CM000683.1:g.40570769T>A GRCh37
NC_000021.7:g.39492639T>A NCBI36
NG_029919.1:g.119944A>T
NG_029919.2:g.119944A>T

Transcript Alleles

HGVS Amino-acid Change
NM_033656.4:c.5573A>T MANE Select NP_387505.1:p.Gln1858Leu
ENST00000342449.8:c.5573A>T MANE Select ENSP00000344333.3:p.Gln1858Leu
NM_018963.4:c.5573A>T NP_061836.2:p.Gln1858Leu
NM_018963.5:c.5573A>T NP_061836.2:p.Gln1858Leu
NM_033656.3:c.5573A>T NP_387505.1:p.Gln1858Leu
ENST00000333229.6:c.5573A>T ENSP00000330753.2:p.Gln1858Leu
ENST00000342449.7:c.5573A>T ENSP00000344333.3:p.Gln1858Leu
ENST00000380800.7:c.5573A>T ENSP00000370178.3:p.Gln1858Leu
ENST00000446924.5:c.3820A>T ENSP00000391014.1:n.3820A>T
XM_011529611.1:c.5429A>T XP_011527913.1:p.Gln1810Leu
XM_011529612.1:c.4733A>T XP_011527914.1:p.Gln1578Leu
XM_011529612.2:c.4733A>T XP_011527914.1:p.Gln1578Leu
XM_011529613.1:c.2606A>T XP_011527915.1:p.Gln869Leu
XM_017028373.1:c.5312A>T XP_016883862.1:p.Gln1771Leu
XM_017028374.1:c.2606A>T XP_016883863.1:p.Gln869Leu