Canonical Allele Identifier: CA2260762797

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049192G= , CM000679.2:g.43049192G=	GRCh38
NC_000017.10:g.41201209G= , CM000679.1:g.41201209G=	GRCh37
NC_000017.9:g.38454735G=	NCBI36
NG_005905.2:g.168792C= , LRG_292:g.168792C=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5335C= MANE Select	NP_009225.1:p.Gln1779=
ENST00000357654.9:c.5335C= MANE Select	ENSP00000350283.3:p.Gln1779=
NM_007294.3:c.5335C= , LRG_292t1:c.5335C=	NP_009225.1:p.Gln1779=
NM_007297.3:c.5194C=	NP_009228.2:p.Gln1732=
NM_007297.4:c.5194C=	NP_009228.2:p.Gln1732=
NM_007298.3:c.2023C=	NP_009229.2:p.Gln675=
NM_007299.3:c.2021-1489C=	NP_009230.2:n.2021-1489C=
NM_007299.4:c.2021-1489C=	NP_009230.2:n.2021-1489C=
NM_007300.3:c.5398C=	NP_009231.2:p.Gln1800=
NM_007300.4:c.5398C=	NP_009231.2:p.Gln1800=
NR_027676.1:n.5471C=
NR_027676.2:n.5512C=
ENST00000352993.7:c.1909C=	ENSP00000312236.5:p.Gln637=
ENST00000357654.7:c.5335C=	ENSP00000350283.3:p.Gln1779=
ENST00000461221.5:c.*5118C=	ENSP00000418548.1:n.*5118C=
ENST00000461574.2:c.5332C=	ENSP00000417241.2:p.Gln1778=
ENST00000468300.5:c.2021-1489C=	ENSP00000417148.1:n.2021-1489C=
ENST00000470026.6:c.5335C=	ENSP00000419274.2:p.Gln1779=
ENST00000471181.6:c.5398C=	ENSP00000418960.2:p.Gln1800=
ENST00000471181.7:c.5398C=	ENSP00000418960.2:p.Gln1800=
ENST00000473961.6:c.5209C=	ENSP00000420201.2:p.Gln1737=
ENST00000476777.6:c.5329C=	ENSP00000417554.2:p.Gln1777=
ENST00000477152.6:c.5257C=	ENSP00000419988.2:p.Gln1753=
ENST00000478531.6:c.2023C=	ENSP00000420412.2:p.Gln675=
ENST00000484087.6:c.1897C=	ENSP00000419481.2:p.Gln633=
ENST00000489037.2:c.5257C=	ENSP00000420781.2:p.Gln1753=
ENST00000491747.6:c.2023C=	ENSP00000420705.2:p.Gln675=
ENST00000493795.5:c.5194C=	ENSP00000418775.1:p.Gln1732=
ENST00000493919.6:c.1885C=	ENSP00000418819.2:p.Gln629=
ENST00000494123.6:c.5335C=	ENSP00000419103.2:p.Gln1779=
ENST00000497488.2:c.4447C=	ENSP00000418986.2:p.Gln1483=
ENST00000586385.5:c.265C=	ENSP00000465818.1:p.Gln89=
ENST00000591534.5:c.808C=	ENSP00000467329.1:p.Gln270=
ENST00000591849.5:c.34C=	ENSP00000465347.1:p.Gln12=
ENST00000618469.2:c.5335C=	ENSP00000478114.2:p.Gln1779=
ENST00000634433.2:c.5212C=	ENSP00000489431.2:p.Gln1738=
ENST00000644379.1:c.1722C=
ENST00000644379.2:c.5401C=	ENSP00000496570.2:p.Gln1801=
ENST00000644555.2:c.1885C=	ENSP00000494614.2:p.Gln629=
ENST00000652672.2:c.5194C=	ENSP00000498906.2:p.Gln1732=
ENST00000700081.1:n.1218C=