Canonical Allele Identifier: CA003266

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55416
• ClinVar RCV Id: RCV000112507 ; RCV000508636 ; RCV001023609 ; RCV001853019
• dbSNP Id: rs45444999
• gnomAD v4: 17-43063882-C-T
• MyVariant Identifiers: chr17:g.41215899C>T (hg19) ; chr17:g.43063882C>T (hg38)
• PubMed: PMID:10508480 ; PMID:11157798 ; PMID:12955719 ; PMID:15235020 ; PMID:17305420 ; PMID:20378548 ; PMID:20516115 ; PMID:21447777 ; PMID:25782689

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063882C>T , CM000679.2:g.43063882C>T	GRCh38
NC_000017.10:g.41215899C>T , CM000679.1:g.41215899C>T	GRCh37
NC_000017.9:g.38469425C>T	NCBI36
NG_005905.2:g.154102G>A , LRG_292:g.154102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5141G>A	ENSP00000417241.2:p.Ser1714Asn
ENST00000470026.6:c.5144G>A	ENSP00000419274.2:p.Ser1715Asn
ENST00000473961.6:c.5018G>A	ENSP00000420201.2:p.Ser1673Asn
ENST00000476777.6:c.5138G>A	ENSP00000417554.2:p.Ser1713Asn
ENST00000477152.6:c.5066G>A	ENSP00000419988.2:p.Ser1689Asn
ENST00000478531.6:c.1832G>A	ENSP00000420412.2:p.Ser611Asn
ENST00000489037.2:c.5066G>A	ENSP00000420781.2:p.Ser1689Asn
ENST00000493919.6:c.1694G>A	ENSP00000418819.2:p.Ser565Asn
ENST00000494123.6:c.5144G>A	ENSP00000419103.2:p.Ser1715Asn
ENST00000497488.2:c.4256G>A	ENSP00000418986.2:p.Ser1419Asn
ENST00000618469.2:c.5144G>A	ENSP00000478114.2:p.Ser1715Asn
ENST00000634433.2:c.5021G>A	ENSP00000489431.2:p.Ser1674Asn
ENST00000644379.2:c.5210G>A	ENSP00000496570.2:p.Ser1737Asn
ENST00000644555.2:c.1694G>A	ENSP00000494614.2:p.Ser565Asn
ENST00000652672.2:c.5003G>A	ENSP00000498906.2:p.Ser1668Asn
ENST00000484087.6:c.1706G>A	ENSP00000419481.2:p.Ser569Asn
ENST00000357654.9:c.5144G>A MANE Select	ENSP00000350283.3:p.Ser1715Asn
ENST00000471181.7:c.5207G>A	ENSP00000418960.2:p.Ser1736Asn
ENST00000644379.1:c.1531G>A
ENST00000352993.7:c.1718G>A	ENSP00000312236.5:p.Ser573Asn
ENST00000357654.7:c.5144G>A	ENSP00000350283.3:p.Ser1715Asn
ENST00000461221.5:c.*4927G>A	ENSP00000418548.1:n.*4927G>A
ENST00000468300.5:c.1832G>A	ENSP00000417148.1:p.Ser611Asn
ENST00000471181.6:c.5207G>A	ENSP00000418960.2:p.Ser1736Asn
ENST00000478531.5:c.1832G>A	ENSP00000420412.1:p.Ser611Asn
ENST00000484087.5:c.1457G>A	ENSP00000419481.1:p.Ser486Asn
ENST00000491747.6:c.1832G>A	ENSP00000420705.2:p.Ser611Asn
ENST00000493795.5:c.5003G>A	ENSP00000418775.1:p.Ser1668Asn
ENST00000493919.5:c.1694G>A	ENSP00000418819.1:p.Ser565Asn
ENST00000586385.5:c.74G>A	ENSP00000465818.1:p.Ser25Asn
ENST00000591534.5:c.617G>A	ENSP00000467329.1:p.Ser206Asn
ENST00000591849.5:c.-98-13692G>A	ENSP00000465347.1:n.-98-13692G>A
NM_007294.3:c.5144G>A , LRG_292t1:c.5144G>A	NP_009225.1:p.Ser1715Asn
NM_007297.3:c.5003G>A	NP_009228.2:p.Ser1668Asn
NM_007298.3:c.1832G>A	NP_009229.2:p.Ser611Asn
NM_007299.3:c.1832G>A	NP_009230.2:p.Ser611Asn
NM_007300.3:c.5207G>A	NP_009231.2:p.Ser1736Asn
NR_027676.1:n.5280G>A
NM_007294.4:c.5144G>A MANE Select	NP_009225.1:p.Ser1715Asn
NM_007297.4:c.5003G>A	NP_009228.2:p.Ser1668Asn
NM_007299.4:c.1832G>A	NP_009230.2:p.Ser611Asn
NM_007300.4:c.5207G>A	NP_009231.2:p.Ser1736Asn
NR_027676.2:n.5321G>A