Canonical Allele Identifier: CA500143581

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868304
• ClinVar RCV Id: RCV001077182
• dbSNP Id: rs2051198731
• MyVariant Identifiers: chr17:g.41203090G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051073G>A , CM000679.2:g.43051073G>A	GRCh38
NC_000017.10:g.41203090G>A , CM000679.1:g.41203090G>A	GRCh37
NC_000017.9:g.38456616G>A	NCBI36
NG_005905.2:g.166911C>T , LRG_292:g.166911C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5319C>T	ENSP00000417241.2:p.Asn1773=
ENST00000470026.6:c.5322C>T	ENSP00000419274.2:p.Asn1774=
ENST00000473961.6:c.5196C>T	ENSP00000420201.2:p.Asn1732=
ENST00000476777.6:c.5316C>T	ENSP00000417554.2:p.Asn1772=
ENST00000477152.6:c.5244C>T	ENSP00000419988.2:p.Asn1748=
ENST00000478531.6:c.2010C>T	ENSP00000420412.2:p.Asn670=
ENST00000489037.2:c.5244C>T	ENSP00000420781.2:p.Asn1748=
ENST00000493919.6:c.1872C>T	ENSP00000418819.2:p.Asn624=
ENST00000494123.6:c.5322C>T	ENSP00000419103.2:p.Asn1774=
ENST00000497488.2:c.4434C>T	ENSP00000418986.2:p.Asn1478=
ENST00000618469.2:c.5322C>T	ENSP00000478114.2:p.Asn1774=
ENST00000634433.2:c.5199C>T	ENSP00000489431.2:p.Asn1733=
ENST00000644379.2:c.5388C>T	ENSP00000496570.2:p.Asn1796=
ENST00000644555.2:c.1872C>T	ENSP00000494614.2:p.Asn624=
ENST00000652672.2:c.5181C>T	ENSP00000498906.2:p.Asn1727=
ENST00000484087.6:c.1884C>T	ENSP00000419481.2:p.Asn628=
ENST00000357654.9:c.5322C>T MANE Select	ENSP00000350283.3:p.Asn1774=
ENST00000471181.7:c.5385C>T	ENSP00000418960.2:p.Asn1795=
ENST00000644379.1:c.1709C>T
ENST00000352993.7:c.1896C>T	ENSP00000312236.5:p.Asn632=
ENST00000357654.7:c.5322C>T	ENSP00000350283.3:p.Asn1774=
ENST00000461221.5:c.*5105C>T	ENSP00000418548.1:n.*5105C>T
ENST00000468300.5:c.2010C>T	ENSP00000417148.1:p.Asn670=
ENST00000471181.6:c.5385C>T	ENSP00000418960.2:p.Asn1795=
ENST00000491747.6:c.2010C>T	ENSP00000420705.2:p.Asn670=
ENST00000493795.5:c.5181C>T	ENSP00000418775.1:p.Asn1727=
ENST00000586385.5:c.252C>T	ENSP00000465818.1:p.Asn84=
ENST00000591534.5:c.795C>T	ENSP00000467329.1:p.Asn265=
ENST00000591849.5:c.-98-883C>T	ENSP00000465347.1:n.-98-883C>T
NM_007294.3:c.5322C>T , LRG_292t1:c.5322C>T	NP_009225.1:p.Asn1774=
NM_007297.3:c.5181C>T	NP_009228.2:p.Asn1727=
NM_007298.3:c.2010C>T	NP_009229.2:p.Asn670=
NM_007299.3:c.2010C>T	NP_009230.2:p.Asn670=
NM_007300.3:c.5385C>T	NP_009231.2:p.Asn1795=
NR_027676.1:n.5458C>T
NM_007294.4:c.5322C>T MANE Select	NP_009225.1:p.Asn1774=
NM_007297.4:c.5181C>T	NP_009228.2:p.Asn1727=
NM_007299.4:c.2010C>T	NP_009230.2:p.Asn670=
NM_007300.4:c.5385C>T	NP_009231.2:p.Asn1795=
NR_027676.2:n.5499C>T