Canonical Allele Identifier: CA003509

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 96949
• ClinVar RCV Id: RCV000083070 ; RCV000567641 ; RCV002513859
• dbSNP Id: rs80357474
• MyVariant Identifiers: chr17:g.41201205A>C (hg19) ; chr17:g.43049188A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049188A>C , CM000679.2:g.43049188A>C	GRCh38
NC_000017.10:g.41201205A>C , CM000679.1:g.41201205A>C	GRCh37
NC_000017.9:g.38454731A>C	NCBI36
NG_005905.2:g.168796T>G , LRG_292:g.168796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5336T>G	ENSP00000417241.2:p.Leu1779Arg
ENST00000470026.6:c.5339T>G	ENSP00000419274.2:p.Leu1780Arg
ENST00000473961.6:c.5213T>G	ENSP00000420201.2:p.Leu1738Arg
ENST00000476777.6:c.5333T>G	ENSP00000417554.2:p.Leu1778Arg
ENST00000477152.6:c.5261T>G	ENSP00000419988.2:p.Leu1754Arg
ENST00000478531.6:c.2027T>G	ENSP00000420412.2:p.Leu676Arg
ENST00000489037.2:c.5261T>G	ENSP00000420781.2:p.Leu1754Arg
ENST00000493919.6:c.1889T>G	ENSP00000418819.2:p.Leu630Arg
ENST00000494123.6:c.5339T>G	ENSP00000419103.2:p.Leu1780Arg
ENST00000497488.2:c.4451T>G	ENSP00000418986.2:p.Leu1484Arg
ENST00000618469.2:c.5339T>G	ENSP00000478114.2:p.Leu1780Arg
ENST00000634433.2:c.5216T>G	ENSP00000489431.2:p.Leu1739Arg
ENST00000644379.2:c.5405T>G	ENSP00000496570.2:p.Leu1802Arg
ENST00000644555.2:c.1889T>G	ENSP00000494614.2:p.Leu630Arg
ENST00000652672.2:c.5198T>G	ENSP00000498906.2:p.Leu1733Arg
ENST00000484087.6:c.1901T>G	ENSP00000419481.2:p.Leu634Arg
ENST00000700081.1:n.1222T>G
ENST00000357654.9:c.5339T>G MANE Select	ENSP00000350283.3:p.Leu1780Arg
ENST00000471181.7:c.5402T>G	ENSP00000418960.2:p.Leu1801Arg
ENST00000644379.1:c.1726T>G
ENST00000352993.7:c.1913T>G	ENSP00000312236.5:p.Leu638Arg
ENST00000357654.7:c.5339T>G	ENSP00000350283.3:p.Leu1780Arg
ENST00000461221.5:c.*5122T>G	ENSP00000418548.1:n.*5122T>G
ENST00000468300.5:c.2021-1485T>G	ENSP00000417148.1:n.2021-1485T>G
ENST00000471181.6:c.5402T>G	ENSP00000418960.2:p.Leu1801Arg
ENST00000491747.6:c.2027T>G	ENSP00000420705.2:p.Leu676Arg
ENST00000493795.5:c.5198T>G	ENSP00000418775.1:p.Leu1733Arg
ENST00000586385.5:c.269T>G	ENSP00000465818.1:p.Leu90Arg
ENST00000591534.5:c.812T>G	ENSP00000467329.1:p.Leu271Arg
ENST00000591849.5:c.38T>G	ENSP00000465347.1:p.Leu13Arg
NM_007294.3:c.5339T>G , LRG_292t1:c.5339T>G	NP_009225.1:p.Leu1780Arg
NM_007297.3:c.5198T>G	NP_009228.2:p.Leu1733Arg
NM_007298.3:c.2027T>G	NP_009229.2:p.Leu676Arg
NM_007299.3:c.2021-1485T>G	NP_009230.2:n.2021-1485T>G
NM_007300.3:c.5402T>G	NP_009231.2:p.Leu1801Arg
NR_027676.1:n.5475T>G
NM_007294.4:c.5339T>G MANE Select	NP_009225.1:p.Leu1780Arg
NM_007297.4:c.5198T>G	NP_009228.2:p.Leu1733Arg
NM_007299.4:c.2021-1485T>G	NP_009230.2:n.2021-1485T>G
NM_007300.4:c.5402T>G	NP_009231.2:p.Leu1801Arg
NR_027676.2:n.5516T>G