Canonical Allele Identifier: CA2260771360

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067647G= , CM000679.2:g.43067647G=	GRCh38
NC_000017.10:g.41219664G= , CM000679.1:g.41219664G=	GRCh37
NC_000017.9:g.38473190G=	NCBI36
NG_005905.2:g.150337C= , LRG_292:g.150337C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5032C=	ENSP00000417241.2:p.Leu1678=
ENST00000470026.6:c.5035C=	ENSP00000419274.2:p.Leu1679=
ENST00000473961.6:c.4909C=	ENSP00000420201.2:p.Leu1637=
ENST00000476777.6:c.5029C=	ENSP00000417554.2:p.Leu1677=
ENST00000477152.6:c.4957C=	ENSP00000419988.2:p.Leu1653=
ENST00000478531.6:c.1723C=	ENSP00000420412.2:p.Leu575=
ENST00000489037.2:c.4957C=	ENSP00000420781.2:p.Leu1653=
ENST00000493919.6:c.1585C=	ENSP00000418819.2:p.Leu529=
ENST00000494123.6:c.5035C=	ENSP00000419103.2:p.Leu1679=
ENST00000497488.2:c.4147C=	ENSP00000418986.2:p.Leu1383=
ENST00000618469.2:c.5035C=	ENSP00000478114.2:p.Leu1679=
ENST00000634433.2:c.4912C=	ENSP00000489431.2:p.Leu1638=
ENST00000644379.2:c.5101C=	ENSP00000496570.2:p.Leu1701=
ENST00000644555.2:c.1585C=	ENSP00000494614.2:p.Leu529=
ENST00000652672.2:c.4894C=	ENSP00000498906.2:p.Leu1632=
ENST00000484087.6:c.1597C=	ENSP00000419481.2:p.Leu533=
ENST00000357654.9:c.5035C= MANE Select	ENSP00000350283.3:p.Leu1679=
ENST00000471181.7:c.5098C=	ENSP00000418960.2:p.Leu1700=
ENST00000644379.1:c.1422C=
ENST00000352993.7:c.1609C=	ENSP00000312236.5:p.Leu537=
ENST00000357654.7:c.5035C=	ENSP00000350283.3:p.Leu1679=
ENST00000461221.5:c.*4818C=	ENSP00000418548.1:n.*4818C=
ENST00000468300.5:c.1723C=	ENSP00000417148.1:p.Leu575=
ENST00000471181.6:c.5098C=	ENSP00000418960.2:p.Leu1700=
ENST00000472490.1:n.188C=
ENST00000478531.5:c.1723C=	ENSP00000420412.1:p.Leu575=
ENST00000484087.5:c.1348C=	ENSP00000419481.1:p.Leu450=
ENST00000491747.6:c.1723C=	ENSP00000420705.2:p.Leu575=
ENST00000493795.5:c.4894C=	ENSP00000418775.1:p.Leu1632=
ENST00000493919.5:c.1585C=	ENSP00000418819.1:p.Leu529=
ENST00000586385.5:c.5-3696C=	ENSP00000465818.1:n.5-3696C=
ENST00000591534.5:c.508C=	ENSP00000467329.1:p.Leu170=
ENST00000591849.5:c.-98-17457C=	ENSP00000465347.1:n.-98-17457C=
NM_007294.3:c.5035C= , LRG_292t1:c.5035C=	NP_009225.1:p.Leu1679=
NM_007297.3:c.4894C=	NP_009228.2:p.Leu1632=
NM_007298.3:c.1723C=	NP_009229.2:p.Leu575=
NM_007299.3:c.1723C=	NP_009230.2:p.Leu575=
NM_007300.3:c.5098C=	NP_009231.2:p.Leu1700=
NR_027676.1:n.5171C=
NM_007294.4:c.5035C= MANE Select	NP_009225.1:p.Leu1679=
NM_007297.4:c.4894C=	NP_009228.2:p.Leu1632=
NM_007299.4:c.1723C=	NP_009230.2:p.Leu575=
NM_007300.4:c.5098C=	NP_009231.2:p.Leu1700=
NR_027676.2:n.5212C=