Canonical Allele Identifier: CA003311

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063369C>A , CM000679.2:g.43063369C>A	GRCh38
NC_000017.10:g.41215386C>A , CM000679.1:g.41215386C>A	GRCh37
NC_000017.9:g.38468912C>A	NCBI36
NG_005905.2:g.154615G>T , LRG_292:g.154615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5154G>T	ENSP00000417241.2:p.Val1718=
ENST00000470026.6:c.5157G>T	ENSP00000419274.2:p.Val1719=
ENST00000473961.6:c.5031G>T	ENSP00000420201.2:p.Val1677=
ENST00000476777.6:c.5151G>T	ENSP00000417554.2:p.Val1717=
ENST00000477152.6:c.5079G>T	ENSP00000419988.2:p.Val1693=
ENST00000478531.6:c.1845G>T	ENSP00000420412.2:p.Val615=
ENST00000489037.2:c.5079G>T	ENSP00000420781.2:p.Val1693=
ENST00000493919.6:c.1707G>T	ENSP00000418819.2:p.Val569=
ENST00000494123.6:c.5157G>T	ENSP00000419103.2:p.Val1719=
ENST00000497488.2:c.4269G>T	ENSP00000418986.2:p.Val1423=
ENST00000618469.2:c.5157G>T	ENSP00000478114.2:p.Val1719=
ENST00000634433.2:c.5034G>T	ENSP00000489431.2:p.Val1678=
ENST00000644379.2:c.5223G>T	ENSP00000496570.2:p.Val1741=
ENST00000644555.2:c.1707G>T	ENSP00000494614.2:p.Val569=
ENST00000652672.2:c.5016G>T	ENSP00000498906.2:p.Val1672=
ENST00000484087.6:c.1719G>T	ENSP00000419481.2:p.Val573=
ENST00000357654.9:c.5157G>T MANE Select	ENSP00000350283.3:p.Val1719=
ENST00000471181.7:c.5220G>T	ENSP00000418960.2:p.Val1740=
ENST00000644379.1:c.1544G>T
ENST00000352993.7:c.1731G>T	ENSP00000312236.5:p.Val577=
ENST00000357654.7:c.5157G>T	ENSP00000350283.3:p.Val1719=
ENST00000461221.5:c.*4940G>T	ENSP00000418548.1:n.*4940G>T
ENST00000468300.5:c.1845G>T	ENSP00000417148.1:p.Val615=
ENST00000471181.6:c.5220G>T	ENSP00000418960.2:p.Val1740=
ENST00000478531.5:c.1845G>T	ENSP00000420412.1:p.Val615=
ENST00000484087.5:c.1470G>T	ENSP00000419481.1:p.Val490=
ENST00000491747.6:c.1845G>T	ENSP00000420705.2:p.Val615=
ENST00000493795.5:c.5016G>T	ENSP00000418775.1:p.Val1672=
ENST00000493919.5:c.1707G>T	ENSP00000418819.1:p.Val569=
ENST00000586385.5:c.87G>T	ENSP00000465818.1:p.Val29=
ENST00000591534.5:c.630G>T	ENSP00000467329.1:p.Val210=
ENST00000591849.5:c.-98-13179G>T	ENSP00000465347.1:n.-98-13179G>T
NM_007294.3:c.5157G>T , LRG_292t1:c.5157G>T	NP_009225.1:p.Val1719=
NM_007297.3:c.5016G>T	NP_009228.2:p.Val1672=
NM_007298.3:c.1845G>T	NP_009229.2:p.Val615=
NM_007299.3:c.1845G>T	NP_009230.2:p.Val615=
NM_007300.3:c.5220G>T	NP_009231.2:p.Val1740=
NR_027676.1:n.5293G>T
NM_007294.4:c.5157G>T MANE Select	NP_009225.1:p.Val1719=
NM_007297.4:c.5016G>T	NP_009228.2:p.Val1672=
NM_007299.4:c.1845G>T	NP_009230.2:p.Val615=
NM_007300.4:c.5220G>T	NP_009231.2:p.Val1740=
NR_027676.2:n.5334G>T