Canonical Allele Identifier: CA2260775514

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076570T= , CM000679.2:g.43076570T=	GRCh38
NC_000017.10:g.41228587T= , CM000679.1:g.41228587T=	GRCh37
NC_000017.9:g.38482113T=	NCBI36
NG_005905.2:g.141414A= , LRG_292:g.141414A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4399A=	ENSP00000417241.2:p.Asn1467=
ENST00000470026.6:c.4402A=	ENSP00000419274.2:p.Asn1468=
ENST00000473961.6:c.4276A=	ENSP00000420201.2:p.Asn1426=
ENST00000476777.6:c.4396A=	ENSP00000417554.2:p.Asn1466=
ENST00000477152.6:c.4324A=	ENSP00000419988.2:p.Asn1442=
ENST00000478531.6:c.1090A=	ENSP00000420412.2:p.Asn364=
ENST00000489037.2:c.4324A=	ENSP00000420781.2:p.Asn1442=
ENST00000493919.6:c.952A=	ENSP00000418819.2:p.Asn318=
ENST00000494123.6:c.4402A=	ENSP00000419103.2:p.Asn1468=
ENST00000497488.2:c.3514A=	ENSP00000418986.2:p.Asn1172=
ENST00000618469.2:c.4402A=	ENSP00000478114.2:p.Asn1468=
ENST00000634433.2:c.4279A=	ENSP00000489431.2:p.Asn1427=
ENST00000644379.2:c.4468A=	ENSP00000496570.2:p.Asn1490=
ENST00000644555.2:c.952A=	ENSP00000494614.2:p.Asn318=
ENST00000652672.2:c.4261A=	ENSP00000498906.2:p.Asn1421=
ENST00000484087.6:c.964A=	ENSP00000419481.2:p.Asn322=
ENST00000700182.1:c.1009A=	ENSP00000514849.1:p.Asn337=
ENST00000357654.9:c.4402A= MANE Select	ENSP00000350283.3:p.Asn1468=
ENST00000471181.7:c.4465A=	ENSP00000418960.2:p.Asn1489=
ENST00000644379.1:c.789A=
ENST00000352993.7:c.976A=	ENSP00000312236.5:p.Asn326=
ENST00000357654.7:c.4402A=	ENSP00000350283.3:p.Asn1468=
ENST00000461221.5:c.*4185A=	ENSP00000418548.1:n.*4185A=
ENST00000461574.1:c.693A=
ENST00000468300.5:c.1090A=	ENSP00000417148.1:p.Asn364=
ENST00000471181.6:c.4465A=	ENSP00000418960.2:p.Asn1489=
ENST00000478531.5:c.1090A=	ENSP00000420412.1:p.Asn364=
ENST00000484087.5:c.715A=	ENSP00000419481.1:p.Asn239=
ENST00000487825.5:c.718A=	ENSP00000418212.1:p.Asn240=
ENST00000491747.6:c.1090A=	ENSP00000420705.2:p.Asn364=
ENST00000493795.5:c.4261A=	ENSP00000418775.1:p.Asn1421=
ENST00000493919.5:c.952A=	ENSP00000418819.1:p.Asn318=
ENST00000586385.5:c.5-12619A=	ENSP00000465818.1:n.5-12619A=
ENST00000591534.5:c.-43-2049A=	ENSP00000467329.1:n.-43-2049A=
ENST00000591849.5:c.-98-26380A=	ENSP00000465347.1:n.-98-26380A=
ENST00000621897.1:n.293A=
NM_007294.3:c.4402A= , LRG_292t1:c.4402A=	NP_009225.1:p.Asn1468=
NM_007297.3:c.4261A=	NP_009228.2:p.Asn1421=
NM_007298.3:c.1090A=	NP_009229.2:p.Asn364=
NM_007299.3:c.1090A=	NP_009230.2:p.Asn364=
NM_007300.3:c.4465A=	NP_009231.2:p.Asn1489=
NR_027676.1:n.4538A=
NM_007294.4:c.4402A= MANE Select	NP_009225.1:p.Asn1468=
NM_007297.4:c.4261A=	NP_009228.2:p.Asn1421=
NM_007299.4:c.1090A=	NP_009230.2:p.Asn364=
NM_007300.4:c.4465A=	NP_009231.2:p.Asn1489=
NR_027676.2:n.4579A=