Canonical Allele Identifier: CA003566

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125844
• ClinVar RCV Id: RCV000112641 ; RCV001284554 ; RCV000541608 ; RCV001798288
• dbSNP Id: rs80358040
• gnomAD v4: 17-43049112-A-G
• MyVariant Identifiers: chr17:g.41201129A>G (hg19) ; chr17:g.43049112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049112A>G , CM000679.2:g.43049112A>G	GRCh38
NC_000017.10:g.41201129A>G , CM000679.1:g.41201129A>G	GRCh37
NC_000017.9:g.38454655A>G	NCBI36
NG_005905.2:g.168872T>C , LRG_292:g.168872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5403+9T>C	ENSP00000417241.2:n.5403+9T>C
ENST00000470026.6:c.5406+9T>C	ENSP00000419274.2:n.5406+9T>C
ENST00000473961.6:c.5280+9T>C	ENSP00000420201.2:n.5280+9T>C
ENST00000476777.6:c.5400+9T>C	ENSP00000417554.2:n.5400+9T>C
ENST00000477152.6:c.5328+9T>C	ENSP00000419988.2:n.5328+9T>C
ENST00000478531.6:c.2094+9T>C	ENSP00000420412.2:n.2094+9T>C
ENST00000489037.2:c.5328+9T>C	ENSP00000420781.2:n.5328+9T>C
ENST00000493919.6:c.1956+9T>C	ENSP00000418819.2:n.1956+9T>C
ENST00000494123.6:c.5406+9T>C	ENSP00000419103.2:n.5406+9T>C
ENST00000497488.2:c.4518+9T>C	ENSP00000418986.2:n.4518+9T>C
ENST00000618469.2:c.5406+9T>C	ENSP00000478114.2:n.5406+9T>C
ENST00000634433.2:c.5283+9T>C	ENSP00000489431.2:n.5283+9T>C
ENST00000644379.2:c.5472+9T>C	ENSP00000496570.2:n.5472+9T>C
ENST00000644555.2:c.1956+9T>C	ENSP00000494614.2:n.1956+9T>C
ENST00000652672.2:c.5265+9T>C	ENSP00000498906.2:n.5265+9T>C
ENST00000484087.6:c.1968+9T>C	ENSP00000419481.2:n.1968+9T>C
ENST00000700081.1:n.1289+9T>C
ENST00000357654.9:c.5406+9T>C MANE Select	ENSP00000350283.3:n.5406+9T>C
ENST00000471181.7:c.5469+9T>C	ENSP00000418960.2:n.5469+9T>C
ENST00000644379.1:c.1793+9T>C
ENST00000352993.7:c.1980+9T>C	ENSP00000312236.5:n.1980+9T>C
ENST00000357654.7:c.5406+9T>C	ENSP00000350283.3:n.5406+9T>C
ENST00000461221.5:c.*5189+9T>C	ENSP00000418548.1:n.*5189+9T>C
ENST00000468300.5:c.2021-1409T>C	ENSP00000417148.1:n.2021-1409T>C
ENST00000471181.6:c.5469+9T>C	ENSP00000418960.2:n.5469+9T>C
ENST00000491747.6:c.2094+9T>C	ENSP00000420705.2:n.2094+9T>C
ENST00000493795.5:c.5265+9T>C	ENSP00000418775.1:n.5265+9T>C
ENST00000586385.5:c.336+9T>C	ENSP00000465818.1:n.336+9T>C
ENST00000591534.5:c.879+9T>C	ENSP00000467329.1:n.879+9T>C
ENST00000591849.5:c.105+9T>C	ENSP00000465347.1:n.105+9T>C
NM_007294.3:c.5406+9T>C , LRG_292t1:c.5406+9T>C	NP_009225.1:n.5406+9T>C
NM_007297.3:c.5265+9T>C	NP_009228.2:n.5265+9T>C
NM_007298.3:c.2094+9T>C	NP_009229.2:n.2094+9T>C
NM_007299.3:c.2021-1409T>C	NP_009230.2:n.2021-1409T>C
NM_007300.3:c.5469+9T>C	NP_009231.2:n.5469+9T>C
NR_027676.1:n.5542+9T>C
NM_007294.4:c.5406+9T>C MANE Select	NP_009225.1:n.5406+9T>C
NM_007297.4:c.5265+9T>C	NP_009228.2:n.5265+9T>C
NM_007299.4:c.2021-1409T>C	NP_009230.2:n.2021-1409T>C
NM_007300.4:c.5469+9T>C	NP_009231.2:n.5469+9T>C
NR_027676.2:n.5583+9T>C