Canonical Allele Identifier: CA10593086

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433710
• ClinVar RCV Id: RCV000502063 ; RCV003645007 ; RCV004003513
• dbSNP Id: rs1555584070
• MyVariant Identifiers: chr17:g.41234460C>G (hg19) ; chr17:g.43082443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082443C>G , CM000679.2:g.43082443C>G	GRCh38
NC_000017.10:g.41234460C>G , CM000679.1:g.41234460C>G	GRCh37
NC_000017.9:g.38487986C>G	NCBI36
NG_005905.2:g.135541G>C , LRG_292:g.135541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4318G>C	ENSP00000417241.2:p.Glu1440Gln
ENST00000470026.6:c.4318G>C	ENSP00000419274.2:p.Glu1440Gln
ENST00000473961.6:c.4192G>C	ENSP00000420201.2:p.Glu1398Gln
ENST00000476777.6:c.4312G>C	ENSP00000417554.2:p.Glu1438Gln
ENST00000477152.6:c.4240G>C	ENSP00000419988.2:p.Glu1414Gln
ENST00000478531.6:c.1006G>C	ENSP00000420412.2:p.Glu336Gln
ENST00000489037.2:c.4240G>C	ENSP00000420781.2:p.Glu1414Gln
ENST00000493919.6:c.868G>C	ENSP00000418819.2:p.Glu290Gln
ENST00000494123.6:c.4318G>C	ENSP00000419103.2:p.Glu1440Gln
ENST00000497488.2:c.3430G>C	ENSP00000418986.2:p.Glu1144Gln
ENST00000618469.2:c.4318G>C	ENSP00000478114.2:p.Glu1440Gln
ENST00000634433.2:c.4195G>C	ENSP00000489431.2:p.Glu1399Gln
ENST00000644379.2:c.4318G>C	ENSP00000496570.2:p.Glu1440Gln
ENST00000644555.2:c.868G>C	ENSP00000494614.2:p.Glu290Gln
ENST00000652672.2:c.4177G>C	ENSP00000498906.2:p.Glu1393Gln
ENST00000484087.6:c.883G>C	ENSP00000419481.2:p.Glu295Gln
ENST00000700182.1:c.928G>C	ENSP00000514849.1:p.Glu310Gln
ENST00000357654.9:c.4318G>C MANE Select	ENSP00000350283.3:p.Glu1440Gln
ENST00000471181.7:c.4318G>C	ENSP00000418960.2:p.Glu1440Gln
ENST00000644379.1:c.639G>C
ENST00000352993.7:c.892G>C	ENSP00000312236.5:p.Glu298Gln
ENST00000357654.7:c.4318G>C	ENSP00000350283.3:p.Glu1440Gln
ENST00000461221.5:c.*4101G>C	ENSP00000418548.1:n.*4101G>C
ENST00000461574.1:c.612G>C
ENST00000468300.5:c.1009G>C	ENSP00000417148.1:p.Glu337Gln
ENST00000471181.6:c.4318G>C	ENSP00000418960.2:p.Glu1440Gln
ENST00000478531.5:c.1006G>C	ENSP00000420412.1:p.Glu336Gln
ENST00000484087.5:c.631G>C	ENSP00000419481.1:p.Glu211Gln
ENST00000487825.5:c.634G>C	ENSP00000418212.1:p.Glu212Gln
ENST00000491747.6:c.1009G>C	ENSP00000420705.2:p.Glu337Gln
ENST00000493795.5:c.4177G>C	ENSP00000418775.1:p.Glu1393Gln
ENST00000493919.5:c.868G>C	ENSP00000418819.1:p.Glu290Gln
ENST00000586385.5:c.5-18492G>C	ENSP00000465818.1:n.5-18492G>C
ENST00000591534.5:c.-43-7922G>C	ENSP00000467329.1:n.-43-7922G>C
ENST00000591849.5:c.-98-32253G>C	ENSP00000465347.1:n.-98-32253G>C
ENST00000621897.1:n.212G>C
NM_007294.3:c.4318G>C , LRG_292t1:c.4318G>C	NP_009225.1:p.Glu1440Gln
NM_007297.3:c.4177G>C	NP_009228.2:p.Glu1393Gln
NM_007298.3:c.1009G>C	NP_009229.2:p.Glu337Gln
NM_007299.3:c.1009G>C	NP_009230.2:p.Glu337Gln
NM_007300.3:c.4318G>C	NP_009231.2:p.Glu1440Gln
NR_027676.1:n.4454G>C
NM_007294.4:c.4318G>C MANE Select	NP_009225.1:p.Glu1440Gln
NM_007297.4:c.4177G>C	NP_009228.2:p.Glu1393Gln
NM_007299.4:c.1009G>C	NP_009230.2:p.Glu337Gln
NM_007300.4:c.4318G>C	NP_009231.2:p.Glu1440Gln
NR_027676.2:n.4495G>C