Canonical Allele Identifier: CA2260769217

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063361G= , CM000679.2:g.43063361G=	GRCh38
NC_000017.10:g.41215378G= , CM000679.1:g.41215378G=	GRCh37
NC_000017.9:g.38468904G=	NCBI36
NG_005905.2:g.154623C= , LRG_292:g.154623C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5165C= MANE Select	NP_009225.1:p.Ser1722=
ENST00000357654.9:c.5165C= MANE Select	ENSP00000350283.3:p.Ser1722=
NM_007294.3:c.5165C= , LRG_292t1:c.5165C=	NP_009225.1:p.Ser1722=
NM_007297.3:c.5024C=	NP_009228.2:p.Ser1675=
NM_007297.4:c.5024C=	NP_009228.2:p.Ser1675=
NM_007298.3:c.1853C=	NP_009229.2:p.Ser618=
NM_007299.3:c.1853C=	NP_009230.2:p.Ser618=
NM_007299.4:c.1853C=	NP_009230.2:p.Ser618=
NM_007300.3:c.5228C=	NP_009231.2:p.Ser1743=
NM_007300.4:c.5228C=	NP_009231.2:p.Ser1743=
NR_027676.1:n.5301C=
NR_027676.2:n.5342C=
ENST00000352993.7:c.1739C=	ENSP00000312236.5:p.Ser580=
ENST00000357654.7:c.5165C=	ENSP00000350283.3:p.Ser1722=
ENST00000461221.5:c.*4948C=	ENSP00000418548.1:n.*4948C=
ENST00000461574.2:c.5162C=	ENSP00000417241.2:p.Ser1721=
ENST00000468300.5:c.1853C=	ENSP00000417148.1:p.Ser618=
ENST00000470026.6:c.5165C=	ENSP00000419274.2:p.Ser1722=
ENST00000471181.6:c.5228C=	ENSP00000418960.2:p.Ser1743=
ENST00000471181.7:c.5228C=	ENSP00000418960.2:p.Ser1743=
ENST00000473961.6:c.5039C=	ENSP00000420201.2:p.Ser1680=
ENST00000476777.6:c.5159C=	ENSP00000417554.2:p.Ser1720=
ENST00000477152.6:c.5087C=	ENSP00000419988.2:p.Ser1696=
ENST00000478531.5:c.1853C=	ENSP00000420412.1:p.Ser618=
ENST00000478531.6:c.1853C=	ENSP00000420412.2:p.Ser618=
ENST00000484087.5:c.1478C=	ENSP00000419481.1:p.Ser493=
ENST00000484087.6:c.1727C=	ENSP00000419481.2:p.Ser576=
ENST00000489037.2:c.5087C=	ENSP00000420781.2:p.Ser1696=
ENST00000491747.6:c.1853C=	ENSP00000420705.2:p.Ser618=
ENST00000493795.5:c.5024C=	ENSP00000418775.1:p.Ser1675=
ENST00000493919.5:c.1715C=	ENSP00000418819.1:p.Ser572=
ENST00000493919.6:c.1715C=	ENSP00000418819.2:p.Ser572=
ENST00000494123.6:c.5165C=	ENSP00000419103.2:p.Ser1722=
ENST00000497488.2:c.4277C=	ENSP00000418986.2:p.Ser1426=
ENST00000586385.5:c.95C=	ENSP00000465818.1:p.Ser32=
ENST00000591534.5:c.638C=	ENSP00000467329.1:p.Ser213=
ENST00000591849.5:c.-98-13171C=	ENSP00000465347.1:n.-98-13171C=
ENST00000618469.2:c.5165C=	ENSP00000478114.2:p.Ser1722=
ENST00000634433.2:c.5042C=	ENSP00000489431.2:p.Ser1681=
ENST00000644379.1:c.1552C=
ENST00000644379.2:c.5231C=	ENSP00000496570.2:p.Ser1744=
ENST00000644555.2:c.1715C=	ENSP00000494614.2:p.Ser572=
ENST00000652672.2:c.5024C=	ENSP00000498906.2:p.Ser1675=