Canonical Allele Identifier: CA003775

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 186042
• ClinVar RCV Id: RCV000165564 ; RCV000472915 ; RCV000495191
• dbSNP Id: rs765950064
• ExAC: 17:41247881 A / G
• gnomAD v2: 17-41247881-A-G
• gnomAD v4: 17-43095864-A-G
• MyVariant Identifiers: chr17:g.41247881A>G (hg19) ; chr17:g.43095864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43095864A>G , CM000679.2:g.43095864A>G	GRCh38
NC_000017.10:g.41247881A>G , CM000679.1:g.41247881A>G	GRCh37
NC_000017.9:g.38501407A>G	NCBI36
NG_005905.2:g.122120T>C , LRG_292:g.122120T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.716T>C
ENST00000461574.2:c.652T>C	ENSP00000417241.2:p.Leu218=
ENST00000470026.6:c.652T>C	ENSP00000419274.2:p.Leu218=
ENST00000473961.6:c.545-1004T>C	ENSP00000420201.2:n.545-1004T>C
ENST00000476777.6:c.649T>C	ENSP00000417554.2:p.Leu217=
ENST00000477152.6:c.574T>C	ENSP00000419988.2:p.Leu192=
ENST00000478531.6:c.649T>C	ENSP00000420412.2:p.Leu217=
ENST00000489037.2:c.574T>C	ENSP00000420781.2:p.Leu192=
ENST00000493919.6:c.511T>C	ENSP00000418819.2:p.Leu171=
ENST00000494123.6:c.652T>C	ENSP00000419103.2:p.Leu218=
ENST00000497488.2:c.-218-1004T>C	ENSP00000418986.2:n.-218-1004T>C
ENST00000618469.2:c.652T>C	ENSP00000478114.2:p.Leu218=
ENST00000634433.2:c.548-1004T>C	ENSP00000489431.2:n.548-1004T>C
ENST00000644379.2:c.652T>C	ENSP00000496570.2:p.Leu218=
ENST00000644555.2:c.511T>C	ENSP00000494614.2:p.Leu171=
ENST00000652672.2:c.511T>C	ENSP00000498906.2:p.Leu171=
ENST00000484087.6:c.548-1004T>C	ENSP00000419481.2:n.548-1004T>C
ENST00000700182.1:c.571T>C	ENSP00000514849.1:p.Leu191=
ENST00000700183.1:c.*660T>C	ENSP00000514850.1:n.*660T>C
ENST00000357654.9:c.652T>C MANE Select	ENSP00000350283.3:p.Leu218=
ENST00000471181.7:c.652T>C	ENSP00000418960.2:p.Leu218=
ENST00000642945.1:c.*526T>C	ENSP00000495897.1:n.*526T>C
ENST00000652672.1:c.511T>C	ENSP00000498906.1:p.Leu171=
ENST00000352993.7:c.652T>C	ENSP00000312236.5:p.Leu218=
ENST00000354071.7:c.652T>C	ENSP00000326002.7:p.Leu218=
ENST00000357654.7:c.652T>C	ENSP00000350283.3:p.Leu218=
ENST00000412061.3:c.3T>C
ENST00000461221.5:c.*435T>C	ENSP00000418548.1:n.*435T>C
ENST00000468300.5:c.652T>C	ENSP00000417148.1:p.Leu218=
ENST00000470026.5:c.652T>C	ENSP00000419274.1:p.Leu218=
ENST00000471181.6:c.652T>C	ENSP00000418960.2:p.Leu218=
ENST00000473961.5:c.268-1004T>C
ENST00000476777.5:c.649T>C	ENSP00000417554.1:p.Leu217=
ENST00000477152.5:c.574T>C	ENSP00000419988.1:p.Leu192=
ENST00000478531.5:c.649T>C	ENSP00000420412.1:p.Leu217=
ENST00000484087.5:c.293-1004T>C	ENSP00000419481.1:n.293-1004T>C
ENST00000487825.5:c.296-1004T>C	ENSP00000418212.1:n.296-1004T>C
ENST00000491747.6:c.652T>C	ENSP00000420705.2:p.Leu218=
ENST00000492859.5:c.*588T>C	ENSP00000420253.1:n.*588T>C
ENST00000493795.5:c.511T>C	ENSP00000418775.1:p.Leu171=
ENST00000493919.5:c.511T>C	ENSP00000418819.1:p.Leu171=
ENST00000494123.5:c.652T>C	ENSP00000419103.1:p.Leu218=
ENST00000497488.1:c.-218-1004T>C	ENSP00000418986.1:n.-218-1004T>C
ENST00000586385.5:c.4+29318T>C	ENSP00000465818.1:n.4+29318T>C
ENST00000591534.5:c.-43-21343T>C	ENSP00000467329.1:n.-43-21343T>C
ENST00000591849.5:c.-99+29407T>C	ENSP00000465347.1:n.-99+29407T>C
ENST00000634433.1:c.548-1004T>C	ENSP00000489431.1:n.548-1004T>C
NM_007294.3:c.652T>C , LRG_292t1:c.652T>C	NP_009225.1:p.Leu218=
NM_007297.3:c.511T>C	NP_009228.2:p.Leu171=
NM_007298.3:c.652T>C	NP_009229.2:p.Leu218=
NM_007299.3:c.652T>C	NP_009230.2:p.Leu218=
NM_007300.3:c.652T>C	NP_009231.2:p.Leu218=
NR_027676.1:n.788T>C
NM_007294.4:c.652T>C MANE Select	NP_009225.1:p.Leu218=
NM_007297.4:c.511T>C	NP_009228.2:p.Leu171=
NM_007299.4:c.652T>C	NP_009230.2:p.Leu218=
NM_007300.4:c.652T>C	NP_009231.2:p.Leu218=
NR_027676.2:n.829T>C