Canonical Allele Identifier: CA10586678

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063951T>G , CM000679.2:g.43063951T>G	GRCh38
NC_000017.10:g.41215968T>G , CM000679.1:g.41215968T>G	GRCh37
NC_000017.9:g.38469494T>G	NCBI36
NG_005905.2:g.154033A>C , LRG_292:g.154033A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5075A>C MANE Select	NP_009225.1:p.Asp1692Ala
ENST00000357654.9:c.5075A>C MANE Select	ENSP00000350283.3:p.Asp1692Ala
NM_007294.3:c.5075A>C , LRG_292t1:c.5075A>C	NP_009225.1:p.Asp1692Ala
NM_007297.3:c.4934A>C	NP_009228.2:p.Asp1645Ala
NM_007297.4:c.4934A>C	NP_009228.2:p.Asp1645Ala
NM_007298.3:c.1763A>C	NP_009229.2:p.Asp588Ala
NM_007299.3:c.1763A>C	NP_009230.2:p.Asp588Ala
NM_007299.4:c.1763A>C	NP_009230.2:p.Asp588Ala
NM_007300.3:c.5138A>C	NP_009231.2:p.Asp1713Ala
NM_007300.4:c.5138A>C	NP_009231.2:p.Asp1713Ala
NR_027676.1:n.5211A>C
NR_027676.2:n.5252A>C
ENST00000352993.7:c.1649A>C	ENSP00000312236.5:p.Asp550Ala
ENST00000357654.7:c.5075A>C	ENSP00000350283.3:p.Asp1692Ala
ENST00000461221.5:c.*4858A>C	ENSP00000418548.1:n.*4858A>C
ENST00000461574.2:c.5072A>C	ENSP00000417241.2:p.Asp1691Ala
ENST00000468300.5:c.1763A>C	ENSP00000417148.1:p.Asp588Ala
ENST00000470026.6:c.5075A>C	ENSP00000419274.2:p.Asp1692Ala
ENST00000471181.6:c.5138A>C	ENSP00000418960.2:p.Asp1713Ala
ENST00000471181.7:c.5138A>C	ENSP00000418960.2:p.Asp1713Ala
ENST00000473961.6:c.4949A>C	ENSP00000420201.2:p.Asp1650Ala
ENST00000476777.6:c.5069A>C	ENSP00000417554.2:p.Asp1690Ala
ENST00000477152.6:c.4997A>C	ENSP00000419988.2:p.Asp1666Ala
ENST00000478531.5:c.1763A>C	ENSP00000420412.1:p.Asp588Ala
ENST00000478531.6:c.1763A>C	ENSP00000420412.2:p.Asp588Ala
ENST00000484087.5:c.1388A>C	ENSP00000419481.1:p.Asp463Ala
ENST00000484087.6:c.1637A>C	ENSP00000419481.2:p.Asp546Ala
ENST00000489037.2:c.4997A>C	ENSP00000420781.2:p.Asp1666Ala
ENST00000491747.6:c.1763A>C	ENSP00000420705.2:p.Asp588Ala
ENST00000493795.5:c.4934A>C	ENSP00000418775.1:p.Asp1645Ala
ENST00000493919.5:c.1625A>C	ENSP00000418819.1:p.Asp542Ala
ENST00000493919.6:c.1625A>C	ENSP00000418819.2:p.Asp542Ala
ENST00000494123.6:c.5075A>C	ENSP00000419103.2:p.Asp1692Ala
ENST00000497488.2:c.4187A>C	ENSP00000418986.2:p.Asp1396Ala
ENST00000586385.5:c.5A>C	ENSP00000465818.1:p.Asp2Ala
ENST00000591534.5:c.548A>C	ENSP00000467329.1:p.Asp183Ala
ENST00000591849.5:c.-98-13761A>C	ENSP00000465347.1:n.-98-13761A>C
ENST00000618469.2:c.5075A>C	ENSP00000478114.2:p.Asp1692Ala
ENST00000634433.2:c.4952A>C	ENSP00000489431.2:p.Asp1651Ala
ENST00000644379.1:c.1462A>C
ENST00000644379.2:c.5141A>C	ENSP00000496570.2:p.Asp1714Ala
ENST00000644555.2:c.1625A>C	ENSP00000494614.2:p.Asp542Ala
ENST00000652672.2:c.4934A>C	ENSP00000498906.2:p.Asp1645Ala