Canonical Allele Identifier: CA2260763721

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051091G= , CM000679.2:g.43051091G=	GRCh38
NC_000017.10:g.41203108G= , CM000679.1:g.41203108G=	GRCh37
NC_000017.9:g.38456634G=	NCBI36
NG_005905.2:g.166893C= , LRG_292:g.166893C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5304C= MANE Select	NP_009225.1:p.Cys1768=
ENST00000357654.9:c.5304C= MANE Select	ENSP00000350283.3:p.Cys1768=
NM_007294.3:c.5304C= , LRG_292t1:c.5304C=	NP_009225.1:p.Cys1768=
NM_007297.3:c.5163C=	NP_009228.2:p.Cys1721=
NM_007297.4:c.5163C=	NP_009228.2:p.Cys1721=
NM_007298.3:c.1992C=	NP_009229.2:p.Cys664=
NM_007299.3:c.1992C=	NP_009230.2:p.Cys664=
NM_007299.4:c.1992C=	NP_009230.2:p.Cys664=
NM_007300.3:c.5367C=	NP_009231.2:p.Cys1789=
NM_007300.4:c.5367C=	NP_009231.2:p.Cys1789=
NR_027676.1:n.5440C=
NR_027676.2:n.5481C=
ENST00000352993.7:c.1878C=	ENSP00000312236.5:p.Cys626=
ENST00000357654.7:c.5304C=	ENSP00000350283.3:p.Cys1768=
ENST00000461221.5:c.*5087C=	ENSP00000418548.1:n.*5087C=
ENST00000461574.2:c.5301C=	ENSP00000417241.2:p.Cys1767=
ENST00000468300.5:c.1992C=	ENSP00000417148.1:p.Cys664=
ENST00000470026.6:c.5304C=	ENSP00000419274.2:p.Cys1768=
ENST00000471181.6:c.5367C=	ENSP00000418960.2:p.Cys1789=
ENST00000471181.7:c.5367C=	ENSP00000418960.2:p.Cys1789=
ENST00000473961.6:c.5178C=	ENSP00000420201.2:p.Cys1726=
ENST00000476777.6:c.5298C=	ENSP00000417554.2:p.Cys1766=
ENST00000477152.6:c.5226C=	ENSP00000419988.2:p.Cys1742=
ENST00000478531.6:c.1992C=	ENSP00000420412.2:p.Cys664=
ENST00000484087.6:c.1866C=	ENSP00000419481.2:p.Cys622=
ENST00000489037.2:c.5226C=	ENSP00000420781.2:p.Cys1742=
ENST00000491747.6:c.1992C=	ENSP00000420705.2:p.Cys664=
ENST00000493795.5:c.5163C=	ENSP00000418775.1:p.Cys1721=
ENST00000493919.6:c.1854C=	ENSP00000418819.2:p.Cys618=
ENST00000494123.6:c.5304C=	ENSP00000419103.2:p.Cys1768=
ENST00000497488.2:c.4416C=	ENSP00000418986.2:p.Cys1472=
ENST00000586385.5:c.234C=	ENSP00000465818.1:p.Cys78=
ENST00000591534.5:c.777C=	ENSP00000467329.1:p.Cys259=
ENST00000591849.5:c.-98-901C=	ENSP00000465347.1:n.-98-901C=
ENST00000618469.2:c.5304C=	ENSP00000478114.2:p.Cys1768=
ENST00000634433.2:c.5181C=	ENSP00000489431.2:p.Cys1727=
ENST00000644379.1:c.1691C=
ENST00000644379.2:c.5370C=	ENSP00000496570.2:p.Cys1790=
ENST00000644555.2:c.1854C=	ENSP00000494614.2:p.Cys618=
ENST00000652672.2:c.5163C=	ENSP00000498906.2:p.Cys1721=