Canonical Allele Identifier: CA001688

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54601
• ClinVar RCV Id: RCV000111889 ; RCV001015939 ; RCV001350271
• dbSNP Id: rs80357315
• MyVariant Identifiers: chr17:g.41244987G>A (hg19) ; chr17:g.43092970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092970G>A , CM000679.2:g.43092970G>A	GRCh38
NC_000017.10:g.41244987G>A , CM000679.1:g.41244987G>A	GRCh37
NC_000017.9:g.38498513G>A	NCBI36
NG_005905.2:g.125014C>T , LRG_292:g.125014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2625C>T
ENST00000461574.2:c.2561C>T	ENSP00000417241.2:p.Ala854Val
ENST00000470026.6:c.2561C>T	ENSP00000419274.2:p.Ala854Val
ENST00000473961.6:c.2435C>T	ENSP00000420201.2:p.Ala812Val
ENST00000476777.6:c.2558C>T	ENSP00000417554.2:p.Ala853Val
ENST00000477152.6:c.2483C>T	ENSP00000419988.2:p.Ala828Val
ENST00000478531.6:c.784+1774C>T	ENSP00000420412.2:n.784+1774C>T
ENST00000489037.2:c.2483C>T	ENSP00000420781.2:p.Ala828Val
ENST00000493919.6:c.646+1774C>T	ENSP00000418819.2:n.646+1774C>T
ENST00000494123.6:c.2561C>T	ENSP00000419103.2:p.Ala854Val
ENST00000497488.2:c.1673C>T	ENSP00000418986.2:p.Ala558Val
ENST00000618469.2:c.2561C>T	ENSP00000478114.2:p.Ala854Val
ENST00000634433.2:c.2438C>T	ENSP00000489431.2:p.Ala813Val
ENST00000644379.2:c.2561C>T	ENSP00000496570.2:p.Ala854Val
ENST00000644555.2:c.646+1774C>T	ENSP00000494614.2:n.646+1774C>T
ENST00000652672.2:c.2420C>T	ENSP00000498906.2:p.Ala807Val
ENST00000484087.6:c.664+1774C>T	ENSP00000419481.2:n.664+1774C>T
ENST00000700182.1:c.706+1774C>T	ENSP00000514849.1:n.706+1774C>T
ENST00000357654.9:c.2561C>T MANE Select	ENSP00000350283.3:p.Ala854Val
ENST00000471181.7:c.2561C>T	ENSP00000418960.2:p.Ala854Val
ENST00000352993.7:c.671-1938C>T	ENSP00000312236.5:n.671-1938C>T
ENST00000354071.7:c.2561C>T	ENSP00000326002.7:p.Ala854Val
ENST00000357654.7:c.2561C>T	ENSP00000350283.3:p.Ala854Val
ENST00000461221.5:c.*2344C>T	ENSP00000418548.1:n.*2344C>T
ENST00000468300.5:c.787+1774C>T	ENSP00000417148.1:n.787+1774C>T
ENST00000471181.6:c.2561C>T	ENSP00000418960.2:p.Ala854Val
ENST00000478531.5:c.784+1774C>T	ENSP00000420412.1:n.784+1774C>T
ENST00000484087.5:c.409+1774C>T	ENSP00000419481.1:n.409+1774C>T
ENST00000487825.5:c.412+1774C>T	ENSP00000418212.1:n.412+1774C>T
ENST00000491747.6:c.787+1774C>T	ENSP00000420705.2:n.787+1774C>T
ENST00000493795.5:c.2420C>T	ENSP00000418775.1:p.Ala807Val
ENST00000493919.5:c.646+1774C>T	ENSP00000418819.1:n.646+1774C>T
ENST00000586385.5:c.5-29019C>T	ENSP00000465818.1:n.5-29019C>T
ENST00000591534.5:c.-43-18449C>T	ENSP00000467329.1:n.-43-18449C>T
ENST00000591849.5:c.-99+32301C>T	ENSP00000465347.1:n.-99+32301C>T
NM_007294.3:c.2561C>T , LRG_292t1:c.2561C>T	NP_009225.1:p.Ala854Val
NM_007297.3:c.2420C>T	NP_009228.2:p.Ala807Val
NM_007298.3:c.787+1774C>T	NP_009229.2:n.787+1774C>T
NM_007299.3:c.787+1774C>T	NP_009230.2:n.787+1774C>T
NM_007300.3:c.2561C>T	NP_009231.2:p.Ala854Val
NR_027676.1:n.2697C>T
NM_007294.4:c.2561C>T MANE Select	NP_009225.1:p.Ala854Val
NM_007297.4:c.2420C>T	NP_009228.2:p.Ala807Val
NM_007299.4:c.787+1774C>T	NP_009230.2:n.787+1774C>T
NM_007300.4:c.2561C>T	NP_009231.2:p.Ala854Val
NR_027676.2:n.2738C>T