Canonical Allele Identifier: CA003223

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55389
• ClinVar RCV Id: RCV000112493 ; RCV000562837 ; RCV001853018
• dbSNP Id: rs80357387
• gnomAD v2: 17-41215958-A-T
• MyVariant Identifiers: chr17:g.41215958A>T (hg19) ; chr17:g.43063941A>T (hg38)
• PubMed: PMID:11877378 ; PMID:12827452 ; PMID:14534301 ; PMID:15133503 ; PMID:15172985 ; PMID:15235020 ; PMID:16528612 ; PMID:17161371 ; PMID:17305420 ; PMID:20516115 ; PMID:21447777 ; PMID:22737296 ; PMID:23704879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063941A>T , CM000679.2:g.43063941A>T	GRCh38
NC_000017.10:g.41215958A>T , CM000679.1:g.41215958A>T	GRCh37
NC_000017.9:g.38469484A>T	NCBI36
NG_005905.2:g.154043T>A , LRG_292:g.154043T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5082T>A	ENSP00000417241.2:p.Phe1694Leu
ENST00000470026.6:c.5085T>A	ENSP00000419274.2:p.Phe1695Leu
ENST00000473961.6:c.4959T>A	ENSP00000420201.2:p.Phe1653Leu
ENST00000476777.6:c.5079T>A	ENSP00000417554.2:p.Phe1693Leu
ENST00000477152.6:c.5007T>A	ENSP00000419988.2:p.Phe1669Leu
ENST00000478531.6:c.1773T>A	ENSP00000420412.2:p.Phe591Leu
ENST00000489037.2:c.5007T>A	ENSP00000420781.2:p.Phe1669Leu
ENST00000493919.6:c.1635T>A	ENSP00000418819.2:p.Phe545Leu
ENST00000494123.6:c.5085T>A	ENSP00000419103.2:p.Phe1695Leu
ENST00000497488.2:c.4197T>A	ENSP00000418986.2:p.Phe1399Leu
ENST00000618469.2:c.5085T>A	ENSP00000478114.2:p.Phe1695Leu
ENST00000634433.2:c.4962T>A	ENSP00000489431.2:p.Phe1654Leu
ENST00000644379.2:c.5151T>A	ENSP00000496570.2:p.Phe1717Leu
ENST00000644555.2:c.1635T>A	ENSP00000494614.2:p.Phe545Leu
ENST00000652672.2:c.4944T>A	ENSP00000498906.2:p.Phe1648Leu
ENST00000484087.6:c.1647T>A	ENSP00000419481.2:p.Phe549Leu
ENST00000357654.9:c.5085T>A MANE Select	ENSP00000350283.3:p.Phe1695Leu
ENST00000471181.7:c.5148T>A	ENSP00000418960.2:p.Phe1716Leu
ENST00000644379.1:c.1472T>A
ENST00000352993.7:c.1659T>A	ENSP00000312236.5:p.Phe553Leu
ENST00000357654.7:c.5085T>A	ENSP00000350283.3:p.Phe1695Leu
ENST00000461221.5:c.*4868T>A	ENSP00000418548.1:n.*4868T>A
ENST00000468300.5:c.1773T>A	ENSP00000417148.1:p.Phe591Leu
ENST00000471181.6:c.5148T>A	ENSP00000418960.2:p.Phe1716Leu
ENST00000478531.5:c.1773T>A	ENSP00000420412.1:p.Phe591Leu
ENST00000484087.5:c.1398T>A	ENSP00000419481.1:p.Phe466Leu
ENST00000491747.6:c.1773T>A	ENSP00000420705.2:p.Phe591Leu
ENST00000493795.5:c.4944T>A	ENSP00000418775.1:p.Phe1648Leu
ENST00000493919.5:c.1635T>A	ENSP00000418819.1:p.Phe545Leu
ENST00000586385.5:c.15T>A	ENSP00000465818.1:p.Phe5Leu
ENST00000591534.5:c.558T>A	ENSP00000467329.1:p.Phe186Leu
ENST00000591849.5:c.-98-13751T>A	ENSP00000465347.1:n.-98-13751T>A
NM_007294.3:c.5085T>A , LRG_292t1:c.5085T>A	NP_009225.1:p.Phe1695Leu
NM_007297.3:c.4944T>A	NP_009228.2:p.Phe1648Leu
NM_007298.3:c.1773T>A	NP_009229.2:p.Phe591Leu
NM_007299.3:c.1773T>A	NP_009230.2:p.Phe591Leu
NM_007300.3:c.5148T>A	NP_009231.2:p.Phe1716Leu
NR_027676.1:n.5221T>A
NM_007294.4:c.5085T>A MANE Select	NP_009225.1:p.Phe1695Leu
NM_007297.4:c.4944T>A	NP_009228.2:p.Phe1648Leu
NM_007299.4:c.1773T>A	NP_009230.2:p.Phe591Leu
NM_007300.4:c.5148T>A	NP_009231.2:p.Phe1716Leu
NR_027676.2:n.5262T>A