Canonical Allele Identifier: CA10591533

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479204
• ClinVar RCV Id: RCV000574073 ; RCV001077898 ; RCV001858075
• dbSNP Id: rs80357169
• gnomAD v3: 17-43067689-C-G
• gnomAD v4: 17-43067689-C-G
• MyVariant Identifiers: chr17:g.41219706C>G (hg19) ; chr17:g.43067689C>G (hg38)
• PubMed: PMID:21120943 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067689C>G , CM000679.2:g.43067689C>G	GRCh38
NC_000017.10:g.41219706C>G , CM000679.1:g.41219706C>G	GRCh37
NC_000017.9:g.38473232C>G	NCBI36
NG_005905.2:g.150295G>C , LRG_292:g.150295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4990G>C	ENSP00000417241.2:p.Val1664Leu
ENST00000470026.6:c.4993G>C	ENSP00000419274.2:p.Val1665Leu
ENST00000473961.6:c.4867G>C	ENSP00000420201.2:p.Val1623Leu
ENST00000476777.6:c.4987G>C	ENSP00000417554.2:p.Val1663Leu
ENST00000477152.6:c.4915G>C	ENSP00000419988.2:p.Val1639Leu
ENST00000478531.6:c.1681G>C	ENSP00000420412.2:p.Val561Leu
ENST00000489037.2:c.4915G>C	ENSP00000420781.2:p.Val1639Leu
ENST00000493919.6:c.1543G>C	ENSP00000418819.2:p.Val515Leu
ENST00000494123.6:c.4993G>C	ENSP00000419103.2:p.Val1665Leu
ENST00000497488.2:c.4105G>C	ENSP00000418986.2:p.Val1369Leu
ENST00000618469.2:c.4993G>C	ENSP00000478114.2:p.Val1665Leu
ENST00000634433.2:c.4870G>C	ENSP00000489431.2:p.Val1624Leu
ENST00000644379.2:c.5059G>C	ENSP00000496570.2:p.Val1687Leu
ENST00000644555.2:c.1543G>C	ENSP00000494614.2:p.Val515Leu
ENST00000652672.2:c.4852G>C	ENSP00000498906.2:p.Val1618Leu
ENST00000484087.6:c.1555G>C	ENSP00000419481.2:p.Val519Leu
ENST00000357654.9:c.4993G>C MANE Select	ENSP00000350283.3:p.Val1665Leu
ENST00000471181.7:c.5056G>C	ENSP00000418960.2:p.Val1686Leu
ENST00000644379.1:c.1380G>C
ENST00000352993.7:c.1567G>C	ENSP00000312236.5:p.Val523Leu
ENST00000357654.7:c.4993G>C	ENSP00000350283.3:p.Val1665Leu
ENST00000461221.5:c.*4776G>C	ENSP00000418548.1:n.*4776G>C
ENST00000468300.5:c.1681G>C	ENSP00000417148.1:p.Val561Leu
ENST00000471181.6:c.5056G>C	ENSP00000418960.2:p.Val1686Leu
ENST00000472490.1:n.146G>C
ENST00000478531.5:c.1681G>C	ENSP00000420412.1:p.Val561Leu
ENST00000484087.5:c.1306G>C	ENSP00000419481.1:p.Val436Leu
ENST00000491747.6:c.1681G>C	ENSP00000420705.2:p.Val561Leu
ENST00000493795.5:c.4852G>C	ENSP00000418775.1:p.Val1618Leu
ENST00000493919.5:c.1543G>C	ENSP00000418819.1:p.Val515Leu
ENST00000586385.5:c.5-3738G>C	ENSP00000465818.1:n.5-3738G>C
ENST00000591534.5:c.466G>C	ENSP00000467329.1:p.Val156Leu
ENST00000591849.5:c.-98-17499G>C	ENSP00000465347.1:n.-98-17499G>C
NM_007294.3:c.4993G>C , LRG_292t1:c.4993G>C	NP_009225.1:p.Val1665Leu
NM_007297.3:c.4852G>C	NP_009228.2:p.Val1618Leu
NM_007298.3:c.1681G>C	NP_009229.2:p.Val561Leu
NM_007299.3:c.1681G>C	NP_009230.2:p.Val561Leu
NM_007300.3:c.5056G>C	NP_009231.2:p.Val1686Leu
NR_027676.1:n.5129G>C
NM_007294.4:c.4993G>C MANE Select	NP_009225.1:p.Val1665Leu
NM_007297.4:c.4852G>C	NP_009228.2:p.Val1618Leu
NM_007299.4:c.1681G>C	NP_009230.2:p.Val561Leu
NM_007300.4:c.5056G>C	NP_009231.2:p.Val1686Leu
NR_027676.2:n.5170G>C