Canonical Allele Identifier: CA2260775480

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076533G= , CM000679.2:g.43076533G=	GRCh38
NC_000017.10:g.41228550G= , CM000679.1:g.41228550G=	GRCh37
NC_000017.9:g.38482076G=	NCBI36
NG_005905.2:g.141451C= , LRG_292:g.141451C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4436C=	ENSP00000417241.2:p.Ser1479=
ENST00000470026.6:c.4439C=	ENSP00000419274.2:p.Ser1480=
ENST00000473961.6:c.4313C=	ENSP00000420201.2:p.Ser1438=
ENST00000476777.6:c.4433C=	ENSP00000417554.2:p.Ser1478=
ENST00000477152.6:c.4361C=	ENSP00000419988.2:p.Ser1454=
ENST00000478531.6:c.1127C=	ENSP00000420412.2:p.Ser376=
ENST00000489037.2:c.4361C=	ENSP00000420781.2:p.Ser1454=
ENST00000493919.6:c.989C=	ENSP00000418819.2:p.Ser330=
ENST00000494123.6:c.4439C=	ENSP00000419103.2:p.Ser1480=
ENST00000497488.2:c.3551C=	ENSP00000418986.2:p.Ser1184=
ENST00000618469.2:c.4439C=	ENSP00000478114.2:p.Ser1480=
ENST00000634433.2:c.4316C=	ENSP00000489431.2:p.Ser1439=
ENST00000644379.2:c.4505C=	ENSP00000496570.2:p.Ser1502=
ENST00000644555.2:c.989C=	ENSP00000494614.2:p.Ser330=
ENST00000652672.2:c.4298C=	ENSP00000498906.2:p.Ser1433=
ENST00000484087.6:c.1001C=	ENSP00000419481.2:p.Ser334=
ENST00000700182.1:c.1046C=	ENSP00000514849.1:p.Ser349=
ENST00000357654.9:c.4439C= MANE Select	ENSP00000350283.3:p.Ser1480=
ENST00000471181.7:c.4502C=	ENSP00000418960.2:p.Ser1501=
ENST00000644379.1:c.826C=
ENST00000352993.7:c.1013C=	ENSP00000312236.5:p.Ser338=
ENST00000357654.7:c.4439C=	ENSP00000350283.3:p.Ser1480=
ENST00000461221.5:c.*4222C=	ENSP00000418548.1:n.*4222C=
ENST00000468300.5:c.1127C=	ENSP00000417148.1:p.Ser376=
ENST00000471181.6:c.4502C=	ENSP00000418960.2:p.Ser1501=
ENST00000478531.5:c.1127C=	ENSP00000420412.1:p.Ser376=
ENST00000484087.5:c.752C=	ENSP00000419481.1:p.Ser251=
ENST00000487825.5:c.755C=	ENSP00000418212.1:p.Ser252=
ENST00000491747.6:c.1127C=	ENSP00000420705.2:p.Ser376=
ENST00000493795.5:c.4298C=	ENSP00000418775.1:p.Ser1433=
ENST00000493919.5:c.989C=	ENSP00000418819.1:p.Ser330=
ENST00000586385.5:c.5-12582C=	ENSP00000465818.1:n.5-12582C=
ENST00000591534.5:c.-43-2012C=	ENSP00000467329.1:n.-43-2012C=
ENST00000591849.5:c.-98-26343C=	ENSP00000465347.1:n.-98-26343C=
ENST00000621897.1:n.330C=
NM_007294.3:c.4439C= , LRG_292t1:c.4439C=	NP_009225.1:p.Ser1480=
NM_007297.3:c.4298C=	NP_009228.2:p.Ser1433=
NM_007298.3:c.1127C=	NP_009229.2:p.Ser376=
NM_007299.3:c.1127C=	NP_009230.2:p.Ser376=
NM_007300.3:c.4502C=	NP_009231.2:p.Ser1501=
NR_027676.1:n.4575C=
NM_007294.4:c.4439C= MANE Select	NP_009225.1:p.Ser1480=
NM_007297.4:c.4298C=	NP_009228.2:p.Ser1433=
NM_007299.4:c.1127C=	NP_009230.2:p.Ser376=
NM_007300.4:c.4502C=	NP_009231.2:p.Ser1501=
NR_027676.2:n.4616C=