Canonical Allele Identifier: CA10591311

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063916A>T , CM000679.2:g.43063916A>T	GRCh38
NC_000017.10:g.41215933A>T , CM000679.1:g.41215933A>T	GRCh37
NC_000017.9:g.38469459A>T	NCBI36
NG_005905.2:g.154068T>A , LRG_292:g.154068T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5110T>A MANE Select	NP_009225.1:p.Phe1704Ile
ENST00000357654.9:c.5110T>A MANE Select	ENSP00000350283.3:p.Phe1704Ile
NM_007294.3:c.5110T>A , LRG_292t1:c.5110T>A	NP_009225.1:p.Phe1704Ile
NM_007297.3:c.4969T>A	NP_009228.2:p.Phe1657Ile
NM_007297.4:c.4969T>A	NP_009228.2:p.Phe1657Ile
NM_007298.3:c.1798T>A	NP_009229.2:p.Phe600Ile
NM_007299.3:c.1798T>A	NP_009230.2:p.Phe600Ile
NM_007299.4:c.1798T>A	NP_009230.2:p.Phe600Ile
NM_007300.3:c.5173T>A	NP_009231.2:p.Phe1725Ile
NM_007300.4:c.5173T>A	NP_009231.2:p.Phe1725Ile
NR_027676.1:n.5246T>A
NR_027676.2:n.5287T>A
ENST00000352993.7:c.1684T>A	ENSP00000312236.5:p.Phe562Ile
ENST00000357654.7:c.5110T>A	ENSP00000350283.3:p.Phe1704Ile
ENST00000461221.5:c.*4893T>A	ENSP00000418548.1:n.*4893T>A
ENST00000461574.2:c.5107T>A	ENSP00000417241.2:p.Phe1703Ile
ENST00000468300.5:c.1798T>A	ENSP00000417148.1:p.Phe600Ile
ENST00000470026.6:c.5110T>A	ENSP00000419274.2:p.Phe1704Ile
ENST00000471181.6:c.5173T>A	ENSP00000418960.2:p.Phe1725Ile
ENST00000471181.7:c.5173T>A	ENSP00000418960.2:p.Phe1725Ile
ENST00000473961.6:c.4984T>A	ENSP00000420201.2:p.Phe1662Ile
ENST00000476777.6:c.5104T>A	ENSP00000417554.2:p.Phe1702Ile
ENST00000477152.6:c.5032T>A	ENSP00000419988.2:p.Phe1678Ile
ENST00000478531.5:c.1798T>A	ENSP00000420412.1:p.Phe600Ile
ENST00000478531.6:c.1798T>A	ENSP00000420412.2:p.Phe600Ile
ENST00000484087.5:c.1423T>A	ENSP00000419481.1:p.Phe475Ile
ENST00000484087.6:c.1672T>A	ENSP00000419481.2:p.Phe558Ile
ENST00000489037.2:c.5032T>A	ENSP00000420781.2:p.Phe1678Ile
ENST00000491747.6:c.1798T>A	ENSP00000420705.2:p.Phe600Ile
ENST00000493795.5:c.4969T>A	ENSP00000418775.1:p.Phe1657Ile
ENST00000493919.5:c.1660T>A	ENSP00000418819.1:p.Phe554Ile
ENST00000493919.6:c.1660T>A	ENSP00000418819.2:p.Phe554Ile
ENST00000494123.6:c.5110T>A	ENSP00000419103.2:p.Phe1704Ile
ENST00000497488.2:c.4222T>A	ENSP00000418986.2:p.Phe1408Ile
ENST00000586385.5:c.40T>A	ENSP00000465818.1:p.Phe14Ile
ENST00000591534.5:c.583T>A	ENSP00000467329.1:p.Phe195Ile
ENST00000591849.5:c.-98-13726T>A	ENSP00000465347.1:n.-98-13726T>A
ENST00000618469.2:c.5110T>A	ENSP00000478114.2:p.Phe1704Ile
ENST00000634433.2:c.4987T>A	ENSP00000489431.2:p.Phe1663Ile
ENST00000644379.1:c.1497T>A
ENST00000644379.2:c.5176T>A	ENSP00000496570.2:p.Phe1726Ile
ENST00000644555.2:c.1660T>A	ENSP00000494614.2:p.Phe554Ile
ENST00000652672.2:c.4969T>A	ENSP00000498906.2:p.Phe1657Ile