Canonical Allele Identifier: CA2260762000
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047670C= , CM000679.2:g.43047670C= GRCh38
NC_000017.10:g.41199687C= , CM000679.1:g.41199687C= GRCh37
NC_000017.9:g.38453213C= NCBI36
NG_005905.2:g.170314G= , LRG_292:g.170314G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5437G= ENSP00000417241.2:p.Ala1813=
ENST00000470026.6:c.5440G= ENSP00000419274.2:p.Ala1814=
ENST00000473961.6:c.5314G= ENSP00000420201.2:p.Ala1772=
ENST00000476777.6:c.5434G= ENSP00000417554.2:p.Ala1812=
ENST00000477152.6:c.5362G= ENSP00000419988.2:p.Ala1788=
ENST00000478531.6:c.2128G= ENSP00000420412.2:p.Ala710=
ENST00000489037.2:c.5362G= ENSP00000420781.2:p.Ala1788=
ENST00000493919.6:c.1990G= ENSP00000418819.2:p.Ala664=
ENST00000494123.6:c.5440G= ENSP00000419103.2:p.Ala1814=
ENST00000497488.2:c.4552G= ENSP00000418986.2:p.Ala1518=
ENST00000618469.2:c.5440G= ENSP00000478114.2:p.Ala1814=
ENST00000634433.2:c.5317G= ENSP00000489431.2:p.Ala1773=
ENST00000644379.2:c.5506G= ENSP00000496570.2:p.Ala1836=
ENST00000644555.2:c.1990G= ENSP00000494614.2:p.Ala664=
ENST00000652672.2:c.5299G= ENSP00000498906.2:p.Ala1767=
ENST00000484087.6:c.2002G= ENSP00000419481.2:p.Ala668=
ENST00000700081.1:n.1323G=
ENST00000700082.1:n.804G=
ENST00000357654.9:c.5440G= MANE Select ENSP00000350283.3:p.Ala1814=
ENST00000471181.7:c.5503G= ENSP00000418960.2:p.Ala1835=
ENST00000644379.1:c.1827G=
ENST00000352993.7:c.2014G= ENSP00000312236.5:p.Ala672=
ENST00000357654.7:c.5440G= ENSP00000350283.3:p.Ala1814=
ENST00000461221.5:c.*5223G= ENSP00000418548.1:n.*5223G=
ENST00000468300.5:c.2054G= ENSP00000417148.1:p.Cys685=
ENST00000471181.6:c.5503G= ENSP00000418960.2:p.Ala1835=
ENST00000491747.6:c.2128G= ENSP00000420705.2:p.Ala710=
ENST00000493795.5:c.5299G= ENSP00000418775.1:p.Ala1767=
ENST00000586385.5:c.370G= ENSP00000465818.1:p.Ala124=
ENST00000591534.5:c.913G= ENSP00000467329.1:p.Ala305=
ENST00000591849.5:c.139G= ENSP00000465347.1:p.Ala47=
NM_007294.3:c.5440G= , LRG_292t1:c.5440G= NP_009225.1:p.Ala1814=
NM_007297.3:c.5299G= NP_009228.2:p.Ala1767=
NM_007298.3:c.2128G= NP_009229.2:p.Ala710=
NM_007299.3:c.2054G= NP_009230.2:p.Cys685=
NM_007300.3:c.5503G= NP_009231.2:p.Ala1835=
NR_027676.1:n.5576G=
NM_007294.4:c.5440G= MANE Select NP_009225.1:p.Ala1814=
NM_007297.4:c.5299G= NP_009228.2:p.Ala1767=
NM_007299.4:c.2054G= NP_009230.2:p.Cys685=
NM_007300.4:c.5503G= NP_009231.2:p.Ala1835=
NR_027676.2:n.5617G=