Canonical Allele Identifier: CA2260771309

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067608C= , CM000679.2:g.43067608C=	GRCh38
NC_000017.10:g.41219625C= , CM000679.1:g.41219625C=	GRCh37
NC_000017.9:g.38473151C=	NCBI36
NG_005905.2:g.150376G= , LRG_292:g.150376G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071G=	ENSP00000417241.2:p.Asp1691=
ENST00000470026.6:c.5074G=	ENSP00000419274.2:p.Asp1692=
ENST00000473961.6:c.4948G=	ENSP00000420201.2:p.Asp1650=
ENST00000476777.6:c.5068G=	ENSP00000417554.2:p.Asp1690=
ENST00000477152.6:c.4996G=	ENSP00000419988.2:p.Asp1666=
ENST00000478531.6:c.1762G=	ENSP00000420412.2:p.Asp588=
ENST00000489037.2:c.4996G=	ENSP00000420781.2:p.Asp1666=
ENST00000493919.6:c.1624G=	ENSP00000418819.2:p.Asp542=
ENST00000494123.6:c.5074G=	ENSP00000419103.2:p.Asp1692=
ENST00000497488.2:c.4186G=	ENSP00000418986.2:p.Asp1396=
ENST00000618469.2:c.5074G=	ENSP00000478114.2:p.Asp1692=
ENST00000634433.2:c.4951G=	ENSP00000489431.2:p.Asp1651=
ENST00000644379.2:c.5140G=	ENSP00000496570.2:p.Asp1714=
ENST00000644555.2:c.1624G=	ENSP00000494614.2:p.Asp542=
ENST00000652672.2:c.4933G=	ENSP00000498906.2:p.Asp1645=
ENST00000484087.6:c.1636G=	ENSP00000419481.2:p.Asp546=
ENST00000357654.9:c.5074G= MANE Select	ENSP00000350283.3:p.Asp1692=
ENST00000471181.7:c.5137G=	ENSP00000418960.2:p.Asp1713=
ENST00000644379.1:c.1461G=
ENST00000352993.7:c.1648G=	ENSP00000312236.5:p.Asp550=
ENST00000357654.7:c.5074G=	ENSP00000350283.3:p.Asp1692=
ENST00000461221.5:c.*4857G=	ENSP00000418548.1:n.*4857G=
ENST00000468300.5:c.1762G=	ENSP00000417148.1:p.Asp588=
ENST00000471181.6:c.5137G=	ENSP00000418960.2:p.Asp1713=
ENST00000472490.1:n.227G=
ENST00000478531.5:c.1762G=	ENSP00000420412.1:p.Asp588=
ENST00000484087.5:c.1387G=	ENSP00000419481.1:p.Asp463=
ENST00000491747.6:c.1762G=	ENSP00000420705.2:p.Asp588=
ENST00000493795.5:c.4933G=	ENSP00000418775.1:p.Asp1645=
ENST00000493919.5:c.1624G=	ENSP00000418819.1:p.Asp542=
ENST00000586385.5:c.5-3657G=	ENSP00000465818.1:n.5-3657G=
ENST00000591534.5:c.547G=	ENSP00000467329.1:p.Asp183=
ENST00000591849.5:c.-98-17418G=	ENSP00000465347.1:n.-98-17418G=
NM_007294.3:c.5074G= , LRG_292t1:c.5074G=	NP_009225.1:p.Asp1692=
NM_007297.3:c.4933G=	NP_009228.2:p.Asp1645=
NM_007298.3:c.1762G=	NP_009229.2:p.Asp588=
NM_007299.3:c.1762G=	NP_009230.2:p.Asp588=
NM_007300.3:c.5137G=	NP_009231.2:p.Asp1713=
NR_027676.1:n.5210G=
NM_007294.4:c.5074G= MANE Select	NP_009225.1:p.Asp1692=
NM_007297.4:c.4933G=	NP_009228.2:p.Asp1645=
NM_007299.4:c.1762G=	NP_009230.2:p.Asp588=
NM_007300.4:c.5137G=	NP_009231.2:p.Asp1713=
NR_027676.2:n.5251G=