Canonical Allele Identifier: CA500142891

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868629
• ClinVar RCV Id: RCV001077566
• dbSNP Id: rs80356829
• MyVariant Identifiers: chr17:g.41197755G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045738G>C , CM000679.2:g.43045738G>C	GRCh38
NC_000017.10:g.41197755G>C , CM000679.1:g.41197755G>C	GRCh37
NC_000017.9:g.38451281G>C	NCBI36
NG_005905.2:g.172246C>G , LRG_292:g.172246C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5529C>G	ENSP00000417241.2:p.Leu1843=
ENST00000470026.6:c.5532C>G	ENSP00000419274.2:p.Leu1844=
ENST00000473961.6:c.5406C>G	ENSP00000420201.2:p.Leu1802=
ENST00000476777.6:c.5526C>G	ENSP00000417554.2:p.Leu1842=
ENST00000477152.6:c.5454C>G	ENSP00000419988.2:p.Leu1818=
ENST00000478531.6:c.2220C>G	ENSP00000420412.2:p.Leu740=
ENST00000489037.2:c.5454C>G	ENSP00000420781.2:p.Leu1818=
ENST00000493919.6:c.2082C>G	ENSP00000418819.2:p.Leu694=
ENST00000494123.6:c.5532C>G	ENSP00000419103.2:p.Leu1844=
ENST00000497488.2:c.4644C>G	ENSP00000418986.2:p.Leu1548=
ENST00000618469.2:c.5532C>G	ENSP00000478114.2:p.Leu1844=
ENST00000634433.2:c.5409C>G	ENSP00000489431.2:p.Leu1803=
ENST00000644379.2:c.5598C>G	ENSP00000496570.2:p.Leu1866=
ENST00000644555.2:c.2082C>G	ENSP00000494614.2:p.Leu694=
ENST00000652672.2:c.5391C>G	ENSP00000498906.2:p.Leu1797=
ENST00000484087.6:c.2094C>G	ENSP00000419481.2:p.Leu698=
ENST00000700081.1:n.1415C>G
ENST00000700082.1:n.896C>G
ENST00000357654.9:c.5532C>G MANE Select	ENSP00000350283.3:p.Leu1844=
ENST00000471181.7:c.5595C>G	ENSP00000418960.2:p.Leu1865=
ENST00000644379.1:c.1919C>G
ENST00000352993.7:c.2106C>G	ENSP00000312236.5:p.Leu702=
ENST00000357654.7:c.5532C>G	ENSP00000350283.3:p.Leu1844=
ENST00000461221.5:c.*5315C>G	ENSP00000418548.1:n.*5315C>G
ENST00000468300.5:c.*46C>G	ENSP00000417148.1:n.*46C>G
ENST00000471181.6:c.5595C>G	ENSP00000418960.2:p.Leu1865=
ENST00000491747.6:c.2220C>G	ENSP00000420705.2:p.Leu740=
ENST00000493795.5:c.5391C>G	ENSP00000418775.1:p.Leu1797=
ENST00000586385.5:c.462C>G	ENSP00000465818.1:p.Leu154=
ENST00000591534.5:c.1005C>G	ENSP00000467329.1:p.Leu335=
ENST00000591849.5:c.231C>G	ENSP00000465347.1:p.Leu77=
NM_007294.3:c.5532C>G , LRG_292t1:c.5532C>G	NP_009225.1:p.Leu1844=
NM_007297.3:c.5391C>G	NP_009228.2:p.Leu1797=
NM_007298.3:c.2220C>G	NP_009229.2:p.Leu740=
NM_007299.3:c.*46C>G	NP_009230.2:n.*46C>G
NM_007300.3:c.5595C>G	NP_009231.2:p.Leu1865=
NR_027676.1:n.5668C>G
NM_007294.4:c.5532C>G MANE Select	NP_009225.1:p.Leu1844=
NM_007297.4:c.5391C>G	NP_009228.2:p.Leu1797=
NM_007299.4:c.*46C>G	NP_009230.2:n.*46C>G
NM_007300.4:c.5595C>G	NP_009231.2:p.Leu1865=
NR_027676.2:n.5709C>G