Canonical Allele Identifier: CA003325

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 187201
• ClinVar RCV Id: RCV000166906 ; RCV000688928 ; RCV000985432 ; RCV001072432
• dbSNP Id: rs786203547
• gnomAD v4: 17-43063349-C-A
• MyVariant Identifiers: chr17:g.41215366C>A (hg19) ; chr17:g.43063349C>A (hg38)
• PubMed: PMID:21120943 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063349C>A , CM000679.2:g.43063349C>A	GRCh38
NC_000017.10:g.41215366C>A , CM000679.1:g.41215366C>A	GRCh37
NC_000017.9:g.38468892C>A	NCBI36
NG_005905.2:g.154635G>T , LRG_292:g.154635G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5174G>T	ENSP00000417241.2:p.Arg1725Ile
ENST00000470026.6:c.5177G>T	ENSP00000419274.2:p.Arg1726Ile
ENST00000473961.6:c.5051G>T	ENSP00000420201.2:p.Arg1684Ile
ENST00000476777.6:c.5171G>T	ENSP00000417554.2:p.Arg1724Ile
ENST00000477152.6:c.5099G>T	ENSP00000419988.2:p.Arg1700Ile
ENST00000478531.6:c.1865G>T	ENSP00000420412.2:p.Arg622Ile
ENST00000489037.2:c.5099G>T	ENSP00000420781.2:p.Arg1700Ile
ENST00000493919.6:c.1727G>T	ENSP00000418819.2:p.Arg576Ile
ENST00000494123.6:c.5177G>T	ENSP00000419103.2:p.Arg1726Ile
ENST00000497488.2:c.4289G>T	ENSP00000418986.2:p.Arg1430Ile
ENST00000618469.2:c.5177G>T	ENSP00000478114.2:p.Arg1726Ile
ENST00000634433.2:c.5054G>T	ENSP00000489431.2:p.Arg1685Ile
ENST00000644379.2:c.5243G>T	ENSP00000496570.2:p.Arg1748Ile
ENST00000644555.2:c.1727G>T	ENSP00000494614.2:p.Arg576Ile
ENST00000652672.2:c.5036G>T	ENSP00000498906.2:p.Arg1679Ile
ENST00000484087.6:c.1739G>T	ENSP00000419481.2:p.Arg580Ile
ENST00000357654.9:c.5177G>T MANE Select	ENSP00000350283.3:p.Arg1726Ile
ENST00000471181.7:c.5240G>T	ENSP00000418960.2:p.Arg1747Ile
ENST00000644379.1:c.1564G>T
ENST00000352993.7:c.1751G>T	ENSP00000312236.5:p.Arg584Ile
ENST00000357654.7:c.5177G>T	ENSP00000350283.3:p.Arg1726Ile
ENST00000461221.5:c.*4960G>T	ENSP00000418548.1:n.*4960G>T
ENST00000468300.5:c.1865G>T	ENSP00000417148.1:p.Arg622Ile
ENST00000471181.6:c.5240G>T	ENSP00000418960.2:p.Arg1747Ile
ENST00000478531.5:c.1865G>T	ENSP00000420412.1:p.Arg622Ile
ENST00000484087.5:c.1490G>T	ENSP00000419481.1:p.Arg497Ile
ENST00000491747.6:c.1865G>T	ENSP00000420705.2:p.Arg622Ile
ENST00000493795.5:c.5036G>T	ENSP00000418775.1:p.Arg1679Ile
ENST00000586385.5:c.107G>T	ENSP00000465818.1:p.Arg36Ile
ENST00000591534.5:c.650G>T	ENSP00000467329.1:p.Arg217Ile
ENST00000591849.5:c.-98-13159G>T	ENSP00000465347.1:n.-98-13159G>T
NM_007294.3:c.5177G>T , LRG_292t1:c.5177G>T	NP_009225.1:p.Arg1726Ile
NM_007297.3:c.5036G>T	NP_009228.2:p.Arg1679Ile
NM_007298.3:c.1865G>T	NP_009229.2:p.Arg622Ile
NM_007299.3:c.1865G>T	NP_009230.2:p.Arg622Ile
NM_007300.3:c.5240G>T	NP_009231.2:p.Arg1747Ile
NR_027676.1:n.5313G>T
NM_007294.4:c.5177G>T MANE Select	NP_009225.1:p.Arg1726Ile
NM_007297.4:c.5036G>T	NP_009228.2:p.Arg1679Ile
NM_007299.4:c.1865G>T	NP_009230.2:p.Arg622Ile
NM_007300.4:c.5240G>T	NP_009231.2:p.Arg1747Ile
NR_027676.2:n.5354G>T