Canonical Allele Identifier: CA10592455

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074474T>G , CM000679.2:g.43074474T>G	GRCh38
NC_000017.10:g.41226491T>G , CM000679.1:g.41226491T>G	GRCh37
NC_000017.9:g.38480017T>G	NCBI36
NG_005905.2:g.143510A>C , LRG_292:g.143510A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4532A>C MANE Select	NP_009225.1:p.His1511Pro
ENST00000357654.9:c.4532A>C MANE Select	ENSP00000350283.3:p.His1511Pro
NM_007294.3:c.4532A>C , LRG_292t1:c.4532A>C	NP_009225.1:p.His1511Pro
NM_007297.3:c.4391A>C	NP_009228.2:p.His1464Pro
NM_007297.4:c.4391A>C	NP_009228.2:p.His1464Pro
NM_007298.3:c.1220A>C	NP_009229.2:p.His407Pro
NM_007299.3:c.1220A>C	NP_009230.2:p.His407Pro
NM_007299.4:c.1220A>C	NP_009230.2:p.His407Pro
NM_007300.3:c.4595A>C	NP_009231.2:p.His1532Pro
NM_007300.4:c.4595A>C	NP_009231.2:p.His1532Pro
NR_027676.1:n.4668A>C
NR_027676.2:n.4709A>C
ENST00000352993.7:c.1106A>C	ENSP00000312236.5:p.His369Pro
ENST00000357654.7:c.4532A>C	ENSP00000350283.3:p.His1511Pro
ENST00000461221.5:c.*4315A>C	ENSP00000418548.1:n.*4315A>C
ENST00000461574.2:c.4529A>C	ENSP00000417241.2:p.His1510Pro
ENST00000468300.5:c.1220A>C	ENSP00000417148.1:p.His407Pro
ENST00000470026.6:c.4532A>C	ENSP00000419274.2:p.His1511Pro
ENST00000471181.6:c.4595A>C	ENSP00000418960.2:p.His1532Pro
ENST00000471181.7:c.4595A>C	ENSP00000418960.2:p.His1532Pro
ENST00000473961.6:c.4406A>C	ENSP00000420201.2:p.His1469Pro
ENST00000476777.6:c.4526A>C	ENSP00000417554.2:p.His1509Pro
ENST00000477152.6:c.4454A>C	ENSP00000419988.2:p.His1485Pro
ENST00000478531.5:c.1220A>C	ENSP00000420412.1:p.His407Pro
ENST00000478531.6:c.1220A>C	ENSP00000420412.2:p.His407Pro
ENST00000484087.5:c.845A>C	ENSP00000419481.1:p.His282Pro
ENST00000484087.6:c.1094A>C	ENSP00000419481.2:p.His365Pro
ENST00000489037.2:c.4454A>C	ENSP00000420781.2:p.His1485Pro
ENST00000491747.6:c.1220A>C	ENSP00000420705.2:p.His407Pro
ENST00000493795.5:c.4391A>C	ENSP00000418775.1:p.His1464Pro
ENST00000493919.5:c.1082A>C	ENSP00000418819.1:p.His361Pro
ENST00000493919.6:c.1082A>C	ENSP00000418819.2:p.His361Pro
ENST00000494123.6:c.4532A>C	ENSP00000419103.2:p.His1511Pro
ENST00000497488.2:c.3644A>C	ENSP00000418986.2:p.His1215Pro
ENST00000586385.5:c.5-10523A>C	ENSP00000465818.1:n.5-10523A>C
ENST00000591534.5:c.5A>C	ENSP00000467329.1:p.His2Pro
ENST00000591849.5:c.-98-24284A>C	ENSP00000465347.1:n.-98-24284A>C
ENST00000618469.2:c.4532A>C	ENSP00000478114.2:p.His1511Pro
ENST00000634433.2:c.4409A>C	ENSP00000489431.2:p.His1470Pro
ENST00000644379.1:c.919A>C
ENST00000644379.2:c.4598A>C	ENSP00000496570.2:p.His1533Pro
ENST00000644555.2:c.1082A>C	ENSP00000494614.2:p.His361Pro
ENST00000652672.2:c.4391A>C	ENSP00000498906.2:p.His1464Pro
ENST00000700182.1:c.1139A>C	ENSP00000514849.1:p.His380Pro