Canonical Allele Identifier: CA10590434

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868111
• ClinVar RCV Id: RCV001076937 ; RCV004031203
• dbSNP Id: rs2050977262
• MyVariant Identifiers: chr17:g.41199664G>A (hg19) ; chr17:g.43047647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047647G>A , CM000679.2:g.43047647G>A	GRCh38
NC_000017.10:g.41199664G>A , CM000679.1:g.41199664G>A	GRCh37
NC_000017.9:g.38453190G>A	NCBI36
NG_005905.2:g.170337C>T , LRG_292:g.170337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5460C>T	ENSP00000417241.2:p.Phe1820=
ENST00000470026.6:c.5463C>T	ENSP00000419274.2:p.Phe1821=
ENST00000473961.6:c.5337C>T	ENSP00000420201.2:p.Phe1779=
ENST00000476777.6:c.5457C>T	ENSP00000417554.2:p.Phe1819=
ENST00000477152.6:c.5385C>T	ENSP00000419988.2:p.Phe1795=
ENST00000478531.6:c.2151C>T	ENSP00000420412.2:p.Phe717=
ENST00000489037.2:c.5385C>T	ENSP00000420781.2:p.Phe1795=
ENST00000493919.6:c.2013C>T	ENSP00000418819.2:p.Phe671=
ENST00000494123.6:c.5463C>T	ENSP00000419103.2:p.Phe1821=
ENST00000497488.2:c.4575C>T	ENSP00000418986.2:p.Phe1525=
ENST00000618469.2:c.5463C>T	ENSP00000478114.2:p.Phe1821=
ENST00000634433.2:c.5340C>T	ENSP00000489431.2:p.Phe1780=
ENST00000644379.2:c.5529C>T	ENSP00000496570.2:p.Phe1843=
ENST00000644555.2:c.2013C>T	ENSP00000494614.2:p.Phe671=
ENST00000652672.2:c.5322C>T	ENSP00000498906.2:p.Phe1774=
ENST00000484087.6:c.2025C>T	ENSP00000419481.2:p.Phe675=
ENST00000700081.1:n.1346C>T
ENST00000700082.1:n.827C>T
ENST00000357654.9:c.5463C>T MANE Select	ENSP00000350283.3:p.Phe1821=
ENST00000471181.7:c.5526C>T	ENSP00000418960.2:p.Phe1842=
ENST00000644379.1:c.1850C>T
ENST00000352993.7:c.2037C>T	ENSP00000312236.5:p.Phe679=
ENST00000357654.7:c.5463C>T	ENSP00000350283.3:p.Phe1821=
ENST00000461221.5:c.*5246C>T	ENSP00000418548.1:n.*5246C>T
ENST00000468300.5:c.2077C>T	ENSP00000417148.1:p.Pro693Ser
ENST00000471181.6:c.5526C>T	ENSP00000418960.2:p.Phe1842=
ENST00000491747.6:c.2151C>T	ENSP00000420705.2:p.Phe717=
ENST00000493795.5:c.5322C>T	ENSP00000418775.1:p.Phe1774=
ENST00000586385.5:c.393C>T	ENSP00000465818.1:p.Phe131=
ENST00000591534.5:c.936C>T	ENSP00000467329.1:p.Phe312=
ENST00000591849.5:c.162C>T	ENSP00000465347.1:p.Phe54=
NM_007294.3:c.5463C>T , LRG_292t1:c.5463C>T	NP_009225.1:p.Phe1821=
NM_007297.3:c.5322C>T	NP_009228.2:p.Phe1774=
NM_007298.3:c.2151C>T	NP_009229.2:p.Phe717=
NM_007299.3:c.2077C>T	NP_009230.2:p.Pro693Ser
NM_007300.3:c.5526C>T	NP_009231.2:p.Phe1842=
NR_027676.1:n.5599C>T
NM_007294.4:c.5463C>T MANE Select	NP_009225.1:p.Phe1821=
NM_007297.4:c.5322C>T	NP_009228.2:p.Phe1774=
NM_007299.4:c.2077C>T	NP_009230.2:p.Pro693Ser
NM_007300.4:c.5526C>T	NP_009231.2:p.Phe1842=
NR_027676.2:n.5640C>T