Canonical Allele Identifier: CA2260762025

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047692T= , CM000679.2:g.43047692T=	GRCh38
NC_000017.10:g.41199709T= , CM000679.1:g.41199709T=	GRCh37
NC_000017.9:g.38453235T=	NCBI36
NG_005905.2:g.170292A= , LRG_292:g.170292A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5415A=	ENSP00000417241.2:p.Pro1805=
ENST00000470026.6:c.5418A=	ENSP00000419274.2:p.Pro1806=
ENST00000473961.6:c.5292A=	ENSP00000420201.2:p.Pro1764=
ENST00000476777.6:c.5412A=	ENSP00000417554.2:p.Pro1804=
ENST00000477152.6:c.5340A=	ENSP00000419988.2:p.Pro1780=
ENST00000478531.6:c.2106A=	ENSP00000420412.2:p.Pro702=
ENST00000489037.2:c.5340A=	ENSP00000420781.2:p.Pro1780=
ENST00000493919.6:c.1968A=	ENSP00000418819.2:p.Pro656=
ENST00000494123.6:c.5418A=	ENSP00000419103.2:p.Pro1806=
ENST00000497488.2:c.4530A=	ENSP00000418986.2:p.Pro1510=
ENST00000618469.2:c.5418A=	ENSP00000478114.2:p.Pro1806=
ENST00000634433.2:c.5295A=	ENSP00000489431.2:p.Pro1765=
ENST00000644379.2:c.5484A=	ENSP00000496570.2:p.Pro1828=
ENST00000644555.2:c.1968A=	ENSP00000494614.2:p.Pro656=
ENST00000652672.2:c.5277A=	ENSP00000498906.2:p.Pro1759=
ENST00000484087.6:c.1980A=	ENSP00000419481.2:p.Pro660=
ENST00000700081.1:n.1301A=
ENST00000700082.1:n.782A=
ENST00000357654.9:c.5418A= MANE Select	ENSP00000350283.3:p.Pro1806=
ENST00000471181.7:c.5481A=	ENSP00000418960.2:p.Pro1827=
ENST00000644379.1:c.1805A=
ENST00000352993.7:c.1992A=	ENSP00000312236.5:p.Pro664=
ENST00000357654.7:c.5418A=	ENSP00000350283.3:p.Pro1806=
ENST00000461221.5:c.*5201A=	ENSP00000418548.1:n.*5201A=
ENST00000468300.5:c.2032A=	ENSP00000417148.1:p.Asn678=
ENST00000471181.6:c.5481A=	ENSP00000418960.2:p.Pro1827=
ENST00000491747.6:c.2106A=	ENSP00000420705.2:p.Pro702=
ENST00000493795.5:c.5277A=	ENSP00000418775.1:p.Pro1759=
ENST00000586385.5:c.348A=	ENSP00000465818.1:p.Pro116=
ENST00000591534.5:c.891A=	ENSP00000467329.1:p.Pro297=
ENST00000591849.5:c.117A=	ENSP00000465347.1:p.Pro39=
NM_007294.3:c.5418A= , LRG_292t1:c.5418A=	NP_009225.1:p.Pro1806=
NM_007297.3:c.5277A=	NP_009228.2:p.Pro1759=
NM_007298.3:c.2106A=	NP_009229.2:p.Pro702=
NM_007299.3:c.2032A=	NP_009230.2:p.Asn678=
NM_007300.3:c.5481A=	NP_009231.2:p.Pro1827=
NR_027676.1:n.5554A=
NM_007294.4:c.5418A= MANE Select	NP_009225.1:p.Pro1806=
NM_007297.4:c.5277A=	NP_009228.2:p.Pro1759=
NM_007299.4:c.2032A=	NP_009230.2:p.Asn678=
NM_007300.4:c.5481A=	NP_009231.2:p.Pro1827=
NR_027676.2:n.5595A=