Canonical Allele Identifier: CA2260769207

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063353C= , CM000679.2:g.43063353C=	GRCh38
NC_000017.10:g.41215370C= , CM000679.1:g.41215370C=	GRCh37
NC_000017.9:g.38468896C=	NCBI36
NG_005905.2:g.154631G= , LRG_292:g.154631G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5173G= MANE Select	NP_009225.1:p.Glu1725=
ENST00000357654.9:c.5173G= MANE Select	ENSP00000350283.3:p.Glu1725=
NM_007294.3:c.5173G= , LRG_292t1:c.5173G=	NP_009225.1:p.Glu1725=
NM_007297.3:c.5032G=	NP_009228.2:p.Glu1678=
NM_007297.4:c.5032G=	NP_009228.2:p.Glu1678=
NM_007298.3:c.1861G=	NP_009229.2:p.Glu621=
NM_007299.3:c.1861G=	NP_009230.2:p.Glu621=
NM_007299.4:c.1861G=	NP_009230.2:p.Glu621=
NM_007300.3:c.5236G=	NP_009231.2:p.Glu1746=
NM_007300.4:c.5236G=	NP_009231.2:p.Glu1746=
NR_027676.1:n.5309G=
NR_027676.2:n.5350G=
ENST00000352993.7:c.1747G=	ENSP00000312236.5:p.Glu583=
ENST00000357654.7:c.5173G=	ENSP00000350283.3:p.Glu1725=
ENST00000461221.5:c.*4956G=	ENSP00000418548.1:n.*4956G=
ENST00000461574.2:c.5170G=	ENSP00000417241.2:p.Glu1724=
ENST00000468300.5:c.1861G=	ENSP00000417148.1:p.Glu621=
ENST00000470026.6:c.5173G=	ENSP00000419274.2:p.Glu1725=
ENST00000471181.6:c.5236G=	ENSP00000418960.2:p.Glu1746=
ENST00000471181.7:c.5236G=	ENSP00000418960.2:p.Glu1746=
ENST00000473961.6:c.5047G=	ENSP00000420201.2:p.Glu1683=
ENST00000476777.6:c.5167G=	ENSP00000417554.2:p.Glu1723=
ENST00000477152.6:c.5095G=	ENSP00000419988.2:p.Glu1699=
ENST00000478531.5:c.1861G=	ENSP00000420412.1:p.Glu621=
ENST00000478531.6:c.1861G=	ENSP00000420412.2:p.Glu621=
ENST00000484087.5:c.1486G=	ENSP00000419481.1:p.Glu496=
ENST00000484087.6:c.1735G=	ENSP00000419481.2:p.Glu579=
ENST00000489037.2:c.5095G=	ENSP00000420781.2:p.Glu1699=
ENST00000491747.6:c.1861G=	ENSP00000420705.2:p.Glu621=
ENST00000493795.5:c.5032G=	ENSP00000418775.1:p.Glu1678=
ENST00000493919.6:c.1723G=	ENSP00000418819.2:p.Glu575=
ENST00000494123.6:c.5173G=	ENSP00000419103.2:p.Glu1725=
ENST00000497488.2:c.4285G=	ENSP00000418986.2:p.Glu1429=
ENST00000586385.5:c.103G=	ENSP00000465818.1:p.Glu35=
ENST00000591534.5:c.646G=	ENSP00000467329.1:p.Glu216=
ENST00000591849.5:c.-98-13163G=	ENSP00000465347.1:n.-98-13163G=
ENST00000618469.2:c.5173G=	ENSP00000478114.2:p.Glu1725=
ENST00000634433.2:c.5050G=	ENSP00000489431.2:p.Glu1684=
ENST00000644379.1:c.1560G=
ENST00000644379.2:c.5239G=	ENSP00000496570.2:p.Glu1747=
ENST00000644555.2:c.1723G=	ENSP00000494614.2:p.Glu575=
ENST00000652672.2:c.5032G=	ENSP00000498906.2:p.Glu1678=