Canonical Allele Identifier: CA003252

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063903G>T , CM000679.2:g.43063903G>T	GRCh38
NC_000017.10:g.41215920G>T , CM000679.1:g.41215920G>T	GRCh37
NC_000017.9:g.38469446G>T	NCBI36
NG_005905.2:g.154081C>A , LRG_292:g.154081C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5123C>A MANE Select	NP_009225.1:p.Ala1708Glu
ENST00000357654.9:c.5123C>A MANE Select	ENSP00000350283.3:p.Ala1708Glu
NM_007294.3:c.5123C>A , LRG_292t1:c.5123C>A	NP_009225.1:p.Ala1708Glu
NM_007297.3:c.4982C>A	NP_009228.2:p.Ala1661Glu
NM_007297.4:c.4982C>A	NP_009228.2:p.Ala1661Glu
NM_007298.3:c.1811C>A	NP_009229.2:p.Ala604Glu
NM_007299.3:c.1811C>A	NP_009230.2:p.Ala604Glu
NM_007299.4:c.1811C>A	NP_009230.2:p.Ala604Glu
NM_007300.3:c.5186C>A	NP_009231.2:p.Ala1729Glu
NM_007300.4:c.5186C>A	NP_009231.2:p.Ala1729Glu
NR_027676.1:n.5259C>A
NR_027676.2:n.5300C>A
ENST00000352993.7:c.1697C>A	ENSP00000312236.5:p.Ala566Glu
ENST00000357654.7:c.5123C>A	ENSP00000350283.3:p.Ala1708Glu
ENST00000461221.5:c.*4906C>A	ENSP00000418548.1:n.*4906C>A
ENST00000461574.2:c.5120C>A	ENSP00000417241.2:p.Ala1707Glu
ENST00000468300.5:c.1811C>A	ENSP00000417148.1:p.Ala604Glu
ENST00000470026.6:c.5123C>A	ENSP00000419274.2:p.Ala1708Glu
ENST00000471181.6:c.5186C>A	ENSP00000418960.2:p.Ala1729Glu
ENST00000471181.7:c.5186C>A	ENSP00000418960.2:p.Ala1729Glu
ENST00000473961.6:c.4997C>A	ENSP00000420201.2:p.Ala1666Glu
ENST00000476777.6:c.5117C>A	ENSP00000417554.2:p.Ala1706Glu
ENST00000477152.6:c.5045C>A	ENSP00000419988.2:p.Ala1682Glu
ENST00000478531.5:c.1811C>A	ENSP00000420412.1:p.Ala604Glu
ENST00000478531.6:c.1811C>A	ENSP00000420412.2:p.Ala604Glu
ENST00000484087.5:c.1436C>A	ENSP00000419481.1:p.Ala479Glu
ENST00000484087.6:c.1685C>A	ENSP00000419481.2:p.Ala562Glu
ENST00000489037.2:c.5045C>A	ENSP00000420781.2:p.Ala1682Glu
ENST00000491747.6:c.1811C>A	ENSP00000420705.2:p.Ala604Glu
ENST00000493795.5:c.4982C>A	ENSP00000418775.1:p.Ala1661Glu
ENST00000493919.5:c.1673C>A	ENSP00000418819.1:p.Ala558Glu
ENST00000493919.6:c.1673C>A	ENSP00000418819.2:p.Ala558Glu
ENST00000494123.6:c.5123C>A	ENSP00000419103.2:p.Ala1708Glu
ENST00000497488.2:c.4235C>A	ENSP00000418986.2:p.Ala1412Glu
ENST00000586385.5:c.53C>A	ENSP00000465818.1:p.Ala18Glu
ENST00000591534.5:c.596C>A	ENSP00000467329.1:p.Ala199Glu
ENST00000591849.5:c.-98-13713C>A	ENSP00000465347.1:n.-98-13713C>A
ENST00000618469.2:c.5123C>A	ENSP00000478114.2:p.Ala1708Glu
ENST00000634433.2:c.5000C>A	ENSP00000489431.2:p.Ala1667Glu
ENST00000644379.1:c.1510C>A
ENST00000644379.2:c.5189C>A	ENSP00000496570.2:p.Ala1730Glu
ENST00000644555.2:c.1673C>A	ENSP00000494614.2:p.Ala558Glu
ENST00000652672.2:c.4982C>A	ENSP00000498906.2:p.Ala1661Glu