Canonical Allele Identifier: CA2260775549

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076602G= , CM000679.2:g.43076602G=	GRCh38
NC_000017.10:g.41228619G= , CM000679.1:g.41228619G=	GRCh37
NC_000017.9:g.38482145G=	NCBI36
NG_005905.2:g.141382C= , LRG_292:g.141382C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4367C=	ENSP00000417241.2:p.Ser1456=
ENST00000470026.6:c.4370C=	ENSP00000419274.2:p.Ser1457=
ENST00000473961.6:c.4244C=	ENSP00000420201.2:p.Ser1415=
ENST00000476777.6:c.4364C=	ENSP00000417554.2:p.Ser1455=
ENST00000477152.6:c.4292C=	ENSP00000419988.2:p.Ser1431=
ENST00000478531.6:c.1058C=	ENSP00000420412.2:p.Ser353=
ENST00000489037.2:c.4292C=	ENSP00000420781.2:p.Ser1431=
ENST00000493919.6:c.920C=	ENSP00000418819.2:p.Ser307=
ENST00000494123.6:c.4370C=	ENSP00000419103.2:p.Ser1457=
ENST00000497488.2:c.3482C=	ENSP00000418986.2:p.Ser1161=
ENST00000618469.2:c.4370C=	ENSP00000478114.2:p.Ser1457=
ENST00000634433.2:c.4247C=	ENSP00000489431.2:p.Ser1416=
ENST00000644379.2:c.4436C=	ENSP00000496570.2:p.Ser1479=
ENST00000644555.2:c.920C=	ENSP00000494614.2:p.Ser307=
ENST00000652672.2:c.4229C=	ENSP00000498906.2:p.Ser1410=
ENST00000484087.6:c.932C=	ENSP00000419481.2:p.Ser311=
ENST00000700182.1:c.977C=	ENSP00000514849.1:p.Ser326=
ENST00000357654.9:c.4370C= MANE Select	ENSP00000350283.3:p.Ser1457=
ENST00000471181.7:c.4433C=	ENSP00000418960.2:p.Ser1478=
ENST00000644379.1:c.757C=
ENST00000352993.7:c.944C=	ENSP00000312236.5:p.Ser315=
ENST00000357654.7:c.4370C=	ENSP00000350283.3:p.Ser1457=
ENST00000461221.5:c.*4153C=	ENSP00000418548.1:n.*4153C=
ENST00000461574.1:c.661C=
ENST00000468300.5:c.1058C=	ENSP00000417148.1:p.Ser353=
ENST00000471181.6:c.4433C=	ENSP00000418960.2:p.Ser1478=
ENST00000478531.5:c.1058C=	ENSP00000420412.1:p.Ser353=
ENST00000484087.5:c.683C=	ENSP00000419481.1:p.Ser228=
ENST00000487825.5:c.686C=	ENSP00000418212.1:p.Ser229=
ENST00000491747.6:c.1058C=	ENSP00000420705.2:p.Ser353=
ENST00000493795.5:c.4229C=	ENSP00000418775.1:p.Ser1410=
ENST00000493919.5:c.920C=	ENSP00000418819.1:p.Ser307=
ENST00000586385.5:c.5-12651C=	ENSP00000465818.1:n.5-12651C=
ENST00000591534.5:c.-43-2081C=	ENSP00000467329.1:n.-43-2081C=
ENST00000591849.5:c.-98-26412C=	ENSP00000465347.1:n.-98-26412C=
ENST00000621897.1:n.261C=
NM_007294.3:c.4370C= , LRG_292t1:c.4370C=	NP_009225.1:p.Ser1457=
NM_007297.3:c.4229C=	NP_009228.2:p.Ser1410=
NM_007298.3:c.1058C=	NP_009229.2:p.Ser353=
NM_007299.3:c.1058C=	NP_009230.2:p.Ser353=
NM_007300.3:c.4433C=	NP_009231.2:p.Ser1478=
NR_027676.1:n.4506C=
NM_007294.4:c.4370C= MANE Select	NP_009225.1:p.Ser1457=
NM_007297.4:c.4229C=	NP_009228.2:p.Ser1410=
NM_007299.4:c.1058C=	NP_009230.2:p.Ser353=
NM_007300.4:c.4433C=	NP_009231.2:p.Ser1478=
NR_027676.2:n.4547C=