Canonical Allele Identifier: CA2260761093

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045749T= , CM000679.2:g.43045749T=	GRCh38
NC_000017.10:g.41197766T= , CM000679.1:g.41197766T=	GRCh37
NC_000017.9:g.38451292T=	NCBI36
NG_005905.2:g.172235A= , LRG_292:g.172235A=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5521A= MANE Select	NP_009225.1:p.Ser1841=
ENST00000357654.9:c.5521A= MANE Select	ENSP00000350283.3:p.Ser1841=
NM_007294.3:c.5521A= , LRG_292t1:c.5521A=	NP_009225.1:p.Ser1841=
NM_007297.3:c.5380A=	NP_009228.2:p.Ser1794=
NM_007297.4:c.5380A=	NP_009228.2:p.Ser1794=
NM_007298.3:c.2209A=	NP_009229.2:p.Ser737=
NM_007299.3:c.*35A=	NP_009230.2:n.*35A=
NM_007299.4:c.*35A=	NP_009230.2:n.*35A=
NM_007300.3:c.5584A=	NP_009231.2:p.Ser1862=
NM_007300.4:c.5584A=	NP_009231.2:p.Ser1862=
NR_027676.1:n.5657A=
NR_027676.2:n.5698A=
ENST00000352993.7:c.2095A=	ENSP00000312236.5:p.Ser699=
ENST00000357654.7:c.5521A=	ENSP00000350283.3:p.Ser1841=
ENST00000461221.5:c.*5304A=	ENSP00000418548.1:n.*5304A=
ENST00000461574.2:c.5518A=	ENSP00000417241.2:p.Ser1840=
ENST00000468300.5:c.*35A=	ENSP00000417148.1:n.*35A=
ENST00000470026.6:c.5521A=	ENSP00000419274.2:p.Ser1841=
ENST00000471181.6:c.5584A=	ENSP00000418960.2:p.Ser1862=
ENST00000471181.7:c.5584A=	ENSP00000418960.2:p.Ser1862=
ENST00000473961.6:c.5395A=	ENSP00000420201.2:p.Ser1799=
ENST00000476777.6:c.5515A=	ENSP00000417554.2:p.Ser1839=
ENST00000477152.6:c.5443A=	ENSP00000419988.2:p.Ser1815=
ENST00000478531.6:c.2209A=	ENSP00000420412.2:p.Ser737=
ENST00000484087.6:c.2083A=	ENSP00000419481.2:p.Ser695=
ENST00000489037.2:c.5443A=	ENSP00000420781.2:p.Ser1815=
ENST00000491747.6:c.2209A=	ENSP00000420705.2:p.Ser737=
ENST00000493795.5:c.5380A=	ENSP00000418775.1:p.Ser1794=
ENST00000493919.6:c.2071A=	ENSP00000418819.2:p.Ser691=
ENST00000494123.6:c.5521A=	ENSP00000419103.2:p.Ser1841=
ENST00000497488.2:c.4633A=	ENSP00000418986.2:p.Ser1545=
ENST00000586385.5:c.451A=	ENSP00000465818.1:p.Ser151=
ENST00000591534.5:c.994A=	ENSP00000467329.1:p.Ser332=
ENST00000591849.5:c.220A=	ENSP00000465347.1:p.Ser74=
ENST00000618469.2:c.5521A=	ENSP00000478114.2:p.Ser1841=
ENST00000634433.2:c.5398A=	ENSP00000489431.2:p.Ser1800=
ENST00000644379.1:c.1908A=
ENST00000644379.2:c.5587A=	ENSP00000496570.2:p.Ser1863=
ENST00000644555.2:c.2071A=	ENSP00000494614.2:p.Ser691=
ENST00000652672.2:c.5380A=	ENSP00000498906.2:p.Ser1794=
ENST00000700081.1:n.1404A=
ENST00000700082.1:n.885A=