Canonical Allele Identifier: CA052333

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 481436
• ClinVar RCV Id: RCV002469203
• dbSNP Id: rs758779691
• ExAC: 17:41228508 T / C
• gnomAD v2: 17-41228508-T-C
• gnomAD v4: 17-43076491-T-C
• MyVariant Identifiers: chr17:g.41228508T>C (hg19) ; chr17:g.43076491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076491T>C , CM000679.2:g.43076491T>C	GRCh38
NC_000017.10:g.41228508T>C , CM000679.1:g.41228508T>C	GRCh37
NC_000017.9:g.38482034T>C	NCBI36
NG_005905.2:g.141493A>G , LRG_292:g.141493A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4478A>G	ENSP00000417241.2:p.Glu1493Gly
ENST00000470026.6:c.4481A>G	ENSP00000419274.2:p.Glu1494Gly
ENST00000473961.6:c.4355A>G	ENSP00000420201.2:p.Glu1452Gly
ENST00000476777.6:c.4475A>G	ENSP00000417554.2:p.Glu1492Gly
ENST00000477152.6:c.4403A>G	ENSP00000419988.2:p.Glu1468Gly
ENST00000478531.6:c.1169A>G	ENSP00000420412.2:p.Glu390Gly
ENST00000489037.2:c.4403A>G	ENSP00000420781.2:p.Glu1468Gly
ENST00000493919.6:c.1031A>G	ENSP00000418819.2:p.Glu344Gly
ENST00000494123.6:c.4481A>G	ENSP00000419103.2:p.Glu1494Gly
ENST00000497488.2:c.3593A>G	ENSP00000418986.2:p.Glu1198Gly
ENST00000618469.2:c.4481A>G	ENSP00000478114.2:p.Glu1494Gly
ENST00000634433.2:c.4358A>G	ENSP00000489431.2:p.Glu1453Gly
ENST00000644379.2:c.4547A>G	ENSP00000496570.2:p.Glu1516Gly
ENST00000644555.2:c.1031A>G	ENSP00000494614.2:p.Glu344Gly
ENST00000652672.2:c.4340A>G	ENSP00000498906.2:p.Glu1447Gly
ENST00000484087.6:c.1043A>G	ENSP00000419481.2:p.Glu348Gly
ENST00000700182.1:c.1088A>G	ENSP00000514849.1:p.Glu363Gly
ENST00000357654.9:c.4481A>G MANE Select	ENSP00000350283.3:p.Glu1494Gly
ENST00000471181.7:c.4544A>G	ENSP00000418960.2:p.Glu1515Gly
ENST00000644379.1:c.868A>G
ENST00000352993.7:c.1055A>G	ENSP00000312236.5:p.Glu352Gly
ENST00000357654.7:c.4481A>G	ENSP00000350283.3:p.Glu1494Gly
ENST00000461221.5:c.*4264A>G	ENSP00000418548.1:n.*4264A>G
ENST00000468300.5:c.1169A>G	ENSP00000417148.1:p.Glu390Gly
ENST00000471181.6:c.4544A>G	ENSP00000418960.2:p.Glu1515Gly
ENST00000478531.5:c.1169A>G	ENSP00000420412.1:p.Glu390Gly
ENST00000484087.5:c.794A>G	ENSP00000419481.1:p.Glu265Gly
ENST00000487825.5:c.797A>G	ENSP00000418212.1:p.Glu266Gly
ENST00000491747.6:c.1169A>G	ENSP00000420705.2:p.Glu390Gly
ENST00000493795.5:c.4340A>G	ENSP00000418775.1:p.Glu1447Gly
ENST00000493919.5:c.1031A>G	ENSP00000418819.1:p.Glu344Gly
ENST00000586385.5:c.5-12540A>G	ENSP00000465818.1:n.5-12540A>G
ENST00000591534.5:c.-43-1970A>G	ENSP00000467329.1:n.-43-1970A>G
ENST00000591849.5:c.-98-26301A>G	ENSP00000465347.1:n.-98-26301A>G
ENST00000621897.1:n.372A>G
NM_007294.3:c.4481A>G , LRG_292t1:c.4481A>G	NP_009225.1:p.Glu1494Gly
NM_007297.3:c.4340A>G	NP_009228.2:p.Glu1447Gly
NM_007298.3:c.1169A>G	NP_009229.2:p.Glu390Gly
NM_007299.3:c.1169A>G	NP_009230.2:p.Glu390Gly
NM_007300.3:c.4544A>G	NP_009231.2:p.Glu1515Gly
NR_027676.1:n.4617A>G
NM_007294.4:c.4481A>G MANE Select	NP_009225.1:p.Glu1494Gly
NM_007297.4:c.4340A>G	NP_009228.2:p.Glu1447Gly
NM_007299.4:c.1169A>G	NP_009230.2:p.Glu390Gly
NM_007300.4:c.4544A>G	NP_009231.2:p.Glu1515Gly
NR_027676.2:n.4658A>G