Canonical Allele Identifier: CA500144828

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531477
• ClinVar RCV Id: RCV000637871 ; RCV001077035 ; RCV001190949
• dbSNP Id: rs1555576963
• gnomAD v4: 17-43057118-T-C
• MyVariant Identifiers: chr17:g.41209135T>C (hg19) ; chr17:g.43057118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057118T>C , CM000679.2:g.43057118T>C	GRCh38
NC_000017.10:g.41209135T>C , CM000679.1:g.41209135T>C	GRCh37
NC_000017.9:g.38462661T>C	NCBI36
NG_005905.2:g.160866A>G , LRG_292:g.160866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5208A>G	ENSP00000417241.2:p.Arg1736=
ENST00000470026.6:c.5211A>G	ENSP00000419274.2:p.Arg1737=
ENST00000473961.6:c.5085A>G	ENSP00000420201.2:p.Arg1695=
ENST00000476777.6:c.5205A>G	ENSP00000417554.2:p.Arg1735=
ENST00000477152.6:c.5133A>G	ENSP00000419988.2:p.Arg1711=
ENST00000478531.6:c.1899A>G	ENSP00000420412.2:p.Arg633=
ENST00000489037.2:c.5133A>G	ENSP00000420781.2:p.Arg1711=
ENST00000493919.6:c.1761A>G	ENSP00000418819.2:p.Arg587=
ENST00000494123.6:c.5211A>G	ENSP00000419103.2:p.Arg1737=
ENST00000497488.2:c.4323A>G	ENSP00000418986.2:p.Arg1441=
ENST00000618469.2:c.5211A>G	ENSP00000478114.2:p.Arg1737=
ENST00000634433.2:c.5088A>G	ENSP00000489431.2:p.Arg1696=
ENST00000644379.2:c.5277A>G	ENSP00000496570.2:p.Arg1759=
ENST00000644555.2:c.1761A>G	ENSP00000494614.2:p.Arg587=
ENST00000652672.2:c.5070A>G	ENSP00000498906.2:p.Arg1690=
ENST00000484087.6:c.1773A>G	ENSP00000419481.2:p.Arg591=
ENST00000357654.9:c.5211A>G MANE Select	ENSP00000350283.3:p.Arg1737=
ENST00000471181.7:c.5274A>G	ENSP00000418960.2:p.Arg1758=
ENST00000644379.1:c.1598A>G
ENST00000352993.7:c.1785A>G	ENSP00000312236.5:p.Arg595=
ENST00000357654.7:c.5211A>G	ENSP00000350283.3:p.Arg1737=
ENST00000461221.5:c.*4994A>G	ENSP00000418548.1:n.*4994A>G
ENST00000468300.5:c.1899A>G	ENSP00000417148.1:p.Arg633=
ENST00000471181.6:c.5274A>G	ENSP00000418960.2:p.Arg1758=
ENST00000491747.6:c.1899A>G	ENSP00000420705.2:p.Arg633=
ENST00000493795.5:c.5070A>G	ENSP00000418775.1:p.Arg1690=
ENST00000586385.5:c.141A>G	ENSP00000465818.1:p.Arg47=
ENST00000591534.5:c.684A>G	ENSP00000467329.1:p.Arg228=
ENST00000591849.5:c.-98-6928A>G	ENSP00000465347.1:n.-98-6928A>G
NM_007294.3:c.5211A>G , LRG_292t1:c.5211A>G	NP_009225.1:p.Arg1737=
NM_007297.3:c.5070A>G	NP_009228.2:p.Arg1690=
NM_007298.3:c.1899A>G	NP_009229.2:p.Arg633=
NM_007299.3:c.1899A>G	NP_009230.2:p.Arg633=
NM_007300.3:c.5274A>G	NP_009231.2:p.Arg1758=
NR_027676.1:n.5347A>G
NM_007294.4:c.5211A>G MANE Select	NP_009225.1:p.Arg1737=
NM_007297.4:c.5070A>G	NP_009228.2:p.Arg1690=
NM_007299.4:c.1899A>G	NP_009230.2:p.Arg633=
NM_007300.4:c.5274A>G	NP_009231.2:p.Arg1758=
NR_027676.2:n.5388A>G