Canonical Allele Identifier: CA002511

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 187243
• ClinVar RCV Id: RCV000166958 ; RCV000808508
• dbSNP Id: rs786203580
• MyVariant Identifiers: chr17:g.41243647T>C (hg19) ; chr17:g.43091630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091630T>C , CM000679.2:g.43091630T>C	GRCh38
NC_000017.10:g.41243647T>C , CM000679.1:g.41243647T>C	GRCh37
NC_000017.9:g.38497173T>C	NCBI36
NG_005905.2:g.126354A>G , LRG_292:g.126354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3965A>G
ENST00000461574.2:c.3901A>G	ENSP00000417241.2:p.Ser1301Gly
ENST00000470026.6:c.3901A>G	ENSP00000419274.2:p.Ser1301Gly
ENST00000473961.6:c.3775A>G	ENSP00000420201.2:p.Ser1259Gly
ENST00000476777.6:c.3898A>G	ENSP00000417554.2:p.Ser1300Gly
ENST00000477152.6:c.3823A>G	ENSP00000419988.2:p.Ser1275Gly
ENST00000478531.6:c.785-598A>G	ENSP00000420412.2:n.785-598A>G
ENST00000489037.2:c.3823A>G	ENSP00000420781.2:p.Ser1275Gly
ENST00000493919.6:c.647-598A>G	ENSP00000418819.2:n.647-598A>G
ENST00000494123.6:c.3901A>G	ENSP00000419103.2:p.Ser1301Gly
ENST00000497488.2:c.3013A>G	ENSP00000418986.2:p.Ser1005Gly
ENST00000618469.2:c.3901A>G	ENSP00000478114.2:p.Ser1301Gly
ENST00000634433.2:c.3778A>G	ENSP00000489431.2:p.Ser1260Gly
ENST00000644379.2:c.3901A>G	ENSP00000496570.2:p.Ser1301Gly
ENST00000644555.2:c.647-598A>G	ENSP00000494614.2:n.647-598A>G
ENST00000652672.2:c.3760A>G	ENSP00000498906.2:p.Ser1254Gly
ENST00000484087.6:c.665-598A>G	ENSP00000419481.2:n.665-598A>G
ENST00000700182.1:c.707-598A>G	ENSP00000514849.1:n.707-598A>G
ENST00000357654.9:c.3901A>G MANE Select	ENSP00000350283.3:p.Ser1301Gly
ENST00000471181.7:c.3901A>G	ENSP00000418960.2:p.Ser1301Gly
ENST00000644379.1:c.222A>G
ENST00000352993.7:c.671-598A>G	ENSP00000312236.5:n.671-598A>G
ENST00000354071.7:c.3901A>G	ENSP00000326002.7:p.Ser1301Gly
ENST00000357654.7:c.3901A>G	ENSP00000350283.3:p.Ser1301Gly
ENST00000461221.5:c.*3684A>G	ENSP00000418548.1:n.*3684A>G
ENST00000461574.1:c.195A>G
ENST00000468300.5:c.788-598A>G	ENSP00000417148.1:n.788-598A>G
ENST00000471181.6:c.3901A>G	ENSP00000418960.2:p.Ser1301Gly
ENST00000478531.5:c.785-598A>G	ENSP00000420412.1:n.785-598A>G
ENST00000484087.5:c.410-598A>G	ENSP00000419481.1:n.410-598A>G
ENST00000487825.5:c.413-598A>G	ENSP00000418212.1:n.413-598A>G
ENST00000491747.6:c.788-598A>G	ENSP00000420705.2:n.788-598A>G
ENST00000493795.5:c.3760A>G	ENSP00000418775.1:p.Ser1254Gly
ENST00000493919.5:c.647-598A>G	ENSP00000418819.1:n.647-598A>G
ENST00000586385.5:c.5-27679A>G	ENSP00000465818.1:n.5-27679A>G
ENST00000591534.5:c.-43-17109A>G	ENSP00000467329.1:n.-43-17109A>G
ENST00000591849.5:c.-99+33641A>G	ENSP00000465347.1:n.-99+33641A>G
NM_007294.3:c.3901A>G , LRG_292t1:c.3901A>G	NP_009225.1:p.Ser1301Gly
NM_007297.3:c.3760A>G	NP_009228.2:p.Ser1254Gly
NM_007298.3:c.788-598A>G	NP_009229.2:n.788-598A>G
NM_007299.3:c.788-598A>G	NP_009230.2:n.788-598A>G
NM_007300.3:c.3901A>G	NP_009231.2:p.Ser1301Gly
NR_027676.1:n.4037A>G
NM_007294.4:c.3901A>G MANE Select	NP_009225.1:p.Ser1301Gly
NM_007297.4:c.3760A>G	NP_009228.2:p.Ser1254Gly
NM_007299.4:c.788-598A>G	NP_009230.2:n.788-598A>G
NM_007300.4:c.3901A>G	NP_009231.2:p.Ser1301Gly
NR_027676.2:n.4078A>G