Canonical Allele Identifier: CA386735439
Community Standard Title: NM_006768.5(BRAP):c.723A>C (p.Arg241Ser)
Gene: BRAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111672685T>G , CM000674.2:g.111672685T>G GRCh38
NC_000012.11:g.112110489T>G , CM000674.1:g.112110489T>G GRCh37
NC_000012.10:g.110594872T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006768.5:c.723A>C MANE Select NP_006759.3:p.Arg241Ser
ENST00000419234.9:c.723A>C MANE Select ENSP00000403524.3:p.Arg241Ser
NM_006768.4:c.723A>C NP_006759.3:p.Arg241Ser
ENST00000327551.6:c.633A>C ENSP00000330813.5:p.Arg211Ser
ENST00000419234.8:c.723A>C ENSP00000403524.3:p.Arg241Ser
ENST00000547043.1:n.627A>C
XM_005253944.3:c.846A>C XP_005254001.1:p.Arg282Ser
XM_005253944.4:c.846A>C XP_005254001.1:p.Arg282Ser
XM_011538788.1:c.276A>C XP_011537090.1:p.Arg92Ser
XM_011538789.1:c.11A>C XP_011537091.1:p.Glu4Ala
XM_011538789.3:c.11A>C XP_011537091.1:p.Glu4Ala
XM_017019992.1:c.561A>C XP_016875481.1:p.Arg187Ser
XM_017019993.1:c.276A>C XP_016875482.1:p.Arg92Ser
XM_017019994.1:c.276A>C XP_016875483.1:p.Arg92Ser
XM_017019995.1:c.276A>C XP_016875484.1:p.Arg92Ser