Canonical Allele Identifier: CA10591443

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867560
• ClinVar RCV Id: RCV001076272 ; RCV001202112
• dbSNP Id: rs760038328
• MyVariant Identifiers: chr17:g.41219663A>C (hg19) ; chr17:g.43067646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067646A>C , CM000679.2:g.43067646A>C	GRCh38
NC_000017.10:g.41219663A>C , CM000679.1:g.41219663A>C	GRCh37
NC_000017.9:g.38473189A>C	NCBI36
NG_005905.2:g.150338T>G , LRG_292:g.150338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5033T>G	ENSP00000417241.2:p.Leu1678Arg
ENST00000470026.6:c.5036T>G	ENSP00000419274.2:p.Leu1679Arg
ENST00000473961.6:c.4910T>G	ENSP00000420201.2:p.Leu1637Arg
ENST00000476777.6:c.5030T>G	ENSP00000417554.2:p.Leu1677Arg
ENST00000477152.6:c.4958T>G	ENSP00000419988.2:p.Leu1653Arg
ENST00000478531.6:c.1724T>G	ENSP00000420412.2:p.Leu575Arg
ENST00000489037.2:c.4958T>G	ENSP00000420781.2:p.Leu1653Arg
ENST00000493919.6:c.1586T>G	ENSP00000418819.2:p.Leu529Arg
ENST00000494123.6:c.5036T>G	ENSP00000419103.2:p.Leu1679Arg
ENST00000497488.2:c.4148T>G	ENSP00000418986.2:p.Leu1383Arg
ENST00000618469.2:c.5036T>G	ENSP00000478114.2:p.Leu1679Arg
ENST00000634433.2:c.4913T>G	ENSP00000489431.2:p.Leu1638Arg
ENST00000644379.2:c.5102T>G	ENSP00000496570.2:p.Leu1701Arg
ENST00000644555.2:c.1586T>G	ENSP00000494614.2:p.Leu529Arg
ENST00000652672.2:c.4895T>G	ENSP00000498906.2:p.Leu1632Arg
ENST00000484087.6:c.1598T>G	ENSP00000419481.2:p.Leu533Arg
ENST00000357654.9:c.5036T>G MANE Select	ENSP00000350283.3:p.Leu1679Arg
ENST00000471181.7:c.5099T>G	ENSP00000418960.2:p.Leu1700Arg
ENST00000644379.1:c.1423T>G
ENST00000352993.7:c.1610T>G	ENSP00000312236.5:p.Leu537Arg
ENST00000357654.7:c.5036T>G	ENSP00000350283.3:p.Leu1679Arg
ENST00000461221.5:c.*4819T>G	ENSP00000418548.1:n.*4819T>G
ENST00000468300.5:c.1724T>G	ENSP00000417148.1:p.Leu575Arg
ENST00000471181.6:c.5099T>G	ENSP00000418960.2:p.Leu1700Arg
ENST00000472490.1:n.189T>G
ENST00000478531.5:c.1724T>G	ENSP00000420412.1:p.Leu575Arg
ENST00000484087.5:c.1349T>G	ENSP00000419481.1:p.Leu450Arg
ENST00000491747.6:c.1724T>G	ENSP00000420705.2:p.Leu575Arg
ENST00000493795.5:c.4895T>G	ENSP00000418775.1:p.Leu1632Arg
ENST00000493919.5:c.1586T>G	ENSP00000418819.1:p.Leu529Arg
ENST00000586385.5:c.5-3695T>G	ENSP00000465818.1:n.5-3695T>G
ENST00000591534.5:c.509T>G	ENSP00000467329.1:p.Leu170Arg
ENST00000591849.5:c.-98-17456T>G	ENSP00000465347.1:n.-98-17456T>G
NM_007294.3:c.5036T>G , LRG_292t1:c.5036T>G	NP_009225.1:p.Leu1679Arg
NM_007297.3:c.4895T>G	NP_009228.2:p.Leu1632Arg
NM_007298.3:c.1724T>G	NP_009229.2:p.Leu575Arg
NM_007299.3:c.1724T>G	NP_009230.2:p.Leu575Arg
NM_007300.3:c.5099T>G	NP_009231.2:p.Leu1700Arg
NR_027676.1:n.5172T>G
NM_007294.4:c.5036T>G MANE Select	NP_009225.1:p.Leu1679Arg
NM_007297.4:c.4895T>G	NP_009228.2:p.Leu1632Arg
NM_007299.4:c.1724T>G	NP_009230.2:p.Leu575Arg
NM_007300.4:c.5099T>G	NP_009231.2:p.Leu1700Arg
NR_027676.2:n.5213T>G