Canonical Allele Identifier: CA500123163

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427251
• ClinVar RCV Id: RCV000495172 ; RCV002323850
• dbSNP Id: rs1131692067
• MyVariant Identifiers: chr17:g.41243036A>G (hg19) ; chr17:g.43091019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091019A>G , CM000679.2:g.43091019A>G	GRCh38
NC_000017.10:g.41243036A>G , CM000679.1:g.41243036A>G	GRCh37
NC_000017.9:g.38496562A>G	NCBI36
NG_005905.2:g.126965T>C , LRG_292:g.126965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4110T>C	ENSP00000417241.2:p.Ser1370=
ENST00000470026.6:c.4110T>C	ENSP00000419274.2:p.Ser1370=
ENST00000473961.6:c.3984T>C	ENSP00000420201.2:p.Ser1328=
ENST00000476777.6:c.4107T>C	ENSP00000417554.2:p.Ser1369=
ENST00000477152.6:c.4032T>C	ENSP00000419988.2:p.Ser1344=
ENST00000478531.6:c.798T>C	ENSP00000420412.2:p.Ser266=
ENST00000489037.2:c.4032T>C	ENSP00000420781.2:p.Ser1344=
ENST00000493919.6:c.660T>C	ENSP00000418819.2:p.Ser220=
ENST00000494123.6:c.4110T>C	ENSP00000419103.2:p.Ser1370=
ENST00000497488.2:c.3222T>C	ENSP00000418986.2:p.Ser1074=
ENST00000618469.2:c.4110T>C	ENSP00000478114.2:p.Ser1370=
ENST00000634433.2:c.3987T>C	ENSP00000489431.2:p.Ser1329=
ENST00000644379.2:c.4110T>C	ENSP00000496570.2:p.Ser1370=
ENST00000644555.2:c.660T>C	ENSP00000494614.2:p.Ser220=
ENST00000652672.2:c.3969T>C	ENSP00000498906.2:p.Ser1323=
ENST00000484087.6:c.678T>C	ENSP00000419481.2:p.Ser226=
ENST00000700182.1:c.720T>C	ENSP00000514849.1:p.Ser240=
ENST00000357654.9:c.4110T>C MANE Select	ENSP00000350283.3:p.Ser1370=
ENST00000471181.7:c.4110T>C	ENSP00000418960.2:p.Ser1370=
ENST00000644379.1:c.431T>C
ENST00000352993.7:c.684T>C	ENSP00000312236.5:p.Ser228=
ENST00000357654.7:c.4110T>C	ENSP00000350283.3:p.Ser1370=
ENST00000461221.5:c.*3893T>C	ENSP00000418548.1:n.*3893T>C
ENST00000461574.1:c.404T>C
ENST00000468300.5:c.801T>C	ENSP00000417148.1:p.Ser267=
ENST00000471181.6:c.4110T>C	ENSP00000418960.2:p.Ser1370=
ENST00000478531.5:c.798T>C	ENSP00000420412.1:p.Ser266=
ENST00000484087.5:c.423T>C	ENSP00000419481.1:p.Ser141=
ENST00000487825.5:c.426T>C	ENSP00000418212.1:p.Ser142=
ENST00000491747.6:c.801T>C	ENSP00000420705.2:p.Ser267=
ENST00000493795.5:c.3969T>C	ENSP00000418775.1:p.Ser1323=
ENST00000493919.5:c.660T>C	ENSP00000418819.1:p.Ser220=
ENST00000586385.5:c.5-27068T>C	ENSP00000465818.1:n.5-27068T>C
ENST00000591534.5:c.-43-16498T>C	ENSP00000467329.1:n.-43-16498T>C
ENST00000591849.5:c.-99+34252T>C	ENSP00000465347.1:n.-99+34252T>C
NM_007294.3:c.4110T>C , LRG_292t1:c.4110T>C	NP_009225.1:p.Ser1370=
NM_007297.3:c.3969T>C	NP_009228.2:p.Ser1323=
NM_007298.3:c.801T>C	NP_009229.2:p.Ser267=
NM_007299.3:c.801T>C	NP_009230.2:p.Ser267=
NM_007300.3:c.4110T>C	NP_009231.2:p.Ser1370=
NR_027676.1:n.4246T>C
NM_007294.4:c.4110T>C MANE Select	NP_009225.1:p.Ser1370=
NM_007297.4:c.3969T>C	NP_009228.2:p.Ser1323=
NM_007299.4:c.801T>C	NP_009230.2:p.Ser267=
NM_007300.4:c.4110T>C	NP_009231.2:p.Ser1370=
NR_027676.2:n.4287T>C