Canonical Allele Identifier: CA10592261

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074382A>G , CM000679.2:g.43074382A>G	GRCh38
NC_000017.10:g.41226399A>G , CM000679.1:g.41226399A>G	GRCh37
NC_000017.9:g.38479925A>G	NCBI36
NG_005905.2:g.143602T>C , LRG_292:g.143602T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4624T>C MANE Select	NP_009225.1:p.Ser1542Pro
ENST00000357654.9:c.4624T>C MANE Select	ENSP00000350283.3:p.Ser1542Pro
NM_007294.3:c.4624T>C , LRG_292t1:c.4624T>C	NP_009225.1:p.Ser1542Pro
NM_007297.3:c.4483T>C	NP_009228.2:p.Ser1495Pro
NM_007297.4:c.4483T>C	NP_009228.2:p.Ser1495Pro
NM_007298.3:c.1312T>C	NP_009229.2:p.Ser438Pro
NM_007299.3:c.1312T>C	NP_009230.2:p.Ser438Pro
NM_007299.4:c.1312T>C	NP_009230.2:p.Ser438Pro
NM_007300.3:c.4687T>C	NP_009231.2:p.Ser1563Pro
NM_007300.4:c.4687T>C	NP_009231.2:p.Ser1563Pro
NR_027676.1:n.4760T>C
NR_027676.2:n.4801T>C
ENST00000352993.7:c.1198T>C	ENSP00000312236.5:p.Ser400Pro
ENST00000357654.7:c.4624T>C	ENSP00000350283.3:p.Ser1542Pro
ENST00000461221.5:c.*4407T>C	ENSP00000418548.1:n.*4407T>C
ENST00000461574.2:c.4621T>C	ENSP00000417241.2:p.Ser1541Pro
ENST00000468300.5:c.1312T>C	ENSP00000417148.1:p.Ser438Pro
ENST00000470026.6:c.4624T>C	ENSP00000419274.2:p.Ser1542Pro
ENST00000471181.6:c.4687T>C	ENSP00000418960.2:p.Ser1563Pro
ENST00000471181.7:c.4687T>C	ENSP00000418960.2:p.Ser1563Pro
ENST00000473961.6:c.4498T>C	ENSP00000420201.2:p.Ser1500Pro
ENST00000476777.6:c.4618T>C	ENSP00000417554.2:p.Ser1540Pro
ENST00000477152.6:c.4546T>C	ENSP00000419988.2:p.Ser1516Pro
ENST00000478531.5:c.1312T>C	ENSP00000420412.1:p.Ser438Pro
ENST00000478531.6:c.1312T>C	ENSP00000420412.2:p.Ser438Pro
ENST00000484087.5:c.937T>C	ENSP00000419481.1:p.Ser313Pro
ENST00000484087.6:c.1186T>C	ENSP00000419481.2:p.Ser396Pro
ENST00000489037.2:c.4546T>C	ENSP00000420781.2:p.Ser1516Pro
ENST00000491747.6:c.1312T>C	ENSP00000420705.2:p.Ser438Pro
ENST00000493795.5:c.4483T>C	ENSP00000418775.1:p.Ser1495Pro
ENST00000493919.5:c.1174T>C	ENSP00000418819.1:p.Ser392Pro
ENST00000493919.6:c.1174T>C	ENSP00000418819.2:p.Ser392Pro
ENST00000494123.6:c.4624T>C	ENSP00000419103.2:p.Ser1542Pro
ENST00000497488.2:c.3736T>C	ENSP00000418986.2:p.Ser1246Pro
ENST00000586385.5:c.5-10431T>C	ENSP00000465818.1:n.5-10431T>C
ENST00000591534.5:c.97T>C	ENSP00000467329.1:p.Ser33Pro
ENST00000591849.5:c.-98-24192T>C	ENSP00000465347.1:n.-98-24192T>C
ENST00000618469.2:c.4624T>C	ENSP00000478114.2:p.Ser1542Pro
ENST00000634433.2:c.4501T>C	ENSP00000489431.2:p.Ser1501Pro
ENST00000644379.1:c.1011T>C
ENST00000644379.2:c.4690T>C	ENSP00000496570.2:p.Ser1564Pro
ENST00000644555.2:c.1174T>C	ENSP00000494614.2:p.Ser392Pro
ENST00000652672.2:c.4483T>C	ENSP00000498906.2:p.Ser1495Pro
ENST00000700182.1:c.1231T>C	ENSP00000514849.1:p.Ser411Pro