Canonical Allele Identifier: CA2260781675

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090981G= , CM000679.2:g.43090981G=	GRCh38
NC_000017.10:g.41242998G= , CM000679.1:g.41242998G=	GRCh37
NC_000017.9:g.38496524G=	NCBI36
NG_005905.2:g.127003C= , LRG_292:g.127003C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4148C= MANE Select	NP_009225.1:p.Ser1383=
ENST00000357654.9:c.4148C= MANE Select	ENSP00000350283.3:p.Ser1383=
NM_007294.3:c.4148C= , LRG_292t1:c.4148C=	NP_009225.1:p.Ser1383=
NM_007297.3:c.4007C=	NP_009228.2:p.Ser1336=
NM_007297.4:c.4007C=	NP_009228.2:p.Ser1336=
NM_007298.3:c.839C=	NP_009229.2:p.Ser280=
NM_007299.3:c.839C=	NP_009230.2:p.Ser280=
NM_007299.4:c.839C=	NP_009230.2:p.Ser280=
NM_007300.3:c.4148C=	NP_009231.2:p.Ser1383=
NM_007300.4:c.4148C=	NP_009231.2:p.Ser1383=
NR_027676.1:n.4284C=
NR_027676.2:n.4325C=
ENST00000352993.7:c.722C=	ENSP00000312236.5:p.Ser241=
ENST00000357654.7:c.4148C=	ENSP00000350283.3:p.Ser1383=
ENST00000461221.5:c.*3931C=	ENSP00000418548.1:n.*3931C=
ENST00000461574.1:c.442C=
ENST00000461574.2:c.4148C=	ENSP00000417241.2:p.Ser1383=
ENST00000468300.5:c.839C=	ENSP00000417148.1:p.Ser280=
ENST00000470026.6:c.4148C=	ENSP00000419274.2:p.Ser1383=
ENST00000471181.6:c.4148C=	ENSP00000418960.2:p.Ser1383=
ENST00000471181.7:c.4148C=	ENSP00000418960.2:p.Ser1383=
ENST00000473961.6:c.4022C=	ENSP00000420201.2:p.Ser1341=
ENST00000476777.6:c.4145C=	ENSP00000417554.2:p.Ser1382=
ENST00000477152.6:c.4070C=	ENSP00000419988.2:p.Ser1357=
ENST00000478531.5:c.836C=	ENSP00000420412.1:p.Ser279=
ENST00000478531.6:c.836C=	ENSP00000420412.2:p.Ser279=
ENST00000484087.5:c.461C=	ENSP00000419481.1:p.Ser154=
ENST00000484087.6:c.716C=	ENSP00000419481.2:p.Ser239=
ENST00000487825.5:c.464C=	ENSP00000418212.1:p.Ser155=
ENST00000489037.2:c.4070C=	ENSP00000420781.2:p.Ser1357=
ENST00000491747.6:c.839C=	ENSP00000420705.2:p.Ser280=
ENST00000493795.5:c.4007C=	ENSP00000418775.1:p.Ser1336=
ENST00000493919.5:c.698C=	ENSP00000418819.1:p.Ser233=
ENST00000493919.6:c.698C=	ENSP00000418819.2:p.Ser233=
ENST00000494123.6:c.4148C=	ENSP00000419103.2:p.Ser1383=
ENST00000497488.2:c.3260C=	ENSP00000418986.2:p.Ser1087=
ENST00000586385.5:c.5-27030C=	ENSP00000465818.1:n.5-27030C=
ENST00000591534.5:c.-43-16460C=	ENSP00000467329.1:n.-43-16460C=
ENST00000591849.5:c.-99+34290C=	ENSP00000465347.1:n.-99+34290C=
ENST00000618469.2:c.4148C=	ENSP00000478114.2:p.Ser1383=
ENST00000634433.2:c.4025C=	ENSP00000489431.2:p.Ser1342=
ENST00000644379.1:c.469C=
ENST00000644379.2:c.4148C=	ENSP00000496570.2:p.Ser1383=
ENST00000644555.2:c.698C=	ENSP00000494614.2:p.Ser233=
ENST00000652672.2:c.4007C=	ENSP00000498906.2:p.Ser1336=
ENST00000700182.1:c.758C=	ENSP00000514849.1:p.Ser253=