Canonical Allele Identifier: CA500143283

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865691
• ClinVar RCV Id: RCV001073158
• dbSNP Id: rs2051076774
• MyVariant Identifiers: chr17:g.41201153T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049136T>A , CM000679.2:g.43049136T>A	GRCh38
NC_000017.10:g.41201153T>A , CM000679.1:g.41201153T>A	GRCh37
NC_000017.9:g.38454679T>A	NCBI36
NG_005905.2:g.168848A>T , LRG_292:g.168848A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5388A>T	ENSP00000417241.2:p.Ser1796=
ENST00000470026.6:c.5391A>T	ENSP00000419274.2:p.Ser1797=
ENST00000473961.6:c.5265A>T	ENSP00000420201.2:p.Ser1755=
ENST00000476777.6:c.5385A>T	ENSP00000417554.2:p.Ser1795=
ENST00000477152.6:c.5313A>T	ENSP00000419988.2:p.Ser1771=
ENST00000478531.6:c.2079A>T	ENSP00000420412.2:p.Ser693=
ENST00000489037.2:c.5313A>T	ENSP00000420781.2:p.Ser1771=
ENST00000493919.6:c.1941A>T	ENSP00000418819.2:p.Ser647=
ENST00000494123.6:c.5391A>T	ENSP00000419103.2:p.Ser1797=
ENST00000497488.2:c.4503A>T	ENSP00000418986.2:p.Ser1501=
ENST00000618469.2:c.5391A>T	ENSP00000478114.2:p.Ser1797=
ENST00000634433.2:c.5268A>T	ENSP00000489431.2:p.Ser1756=
ENST00000644379.2:c.5457A>T	ENSP00000496570.2:p.Ser1819=
ENST00000644555.2:c.1941A>T	ENSP00000494614.2:p.Ser647=
ENST00000652672.2:c.5250A>T	ENSP00000498906.2:p.Ser1750=
ENST00000484087.6:c.1953A>T	ENSP00000419481.2:p.Ser651=
ENST00000700081.1:n.1274A>T
ENST00000357654.9:c.5391A>T MANE Select	ENSP00000350283.3:p.Ser1797=
ENST00000471181.7:c.5454A>T	ENSP00000418960.2:p.Ser1818=
ENST00000644379.1:c.1778A>T
ENST00000352993.7:c.1965A>T	ENSP00000312236.5:p.Ser655=
ENST00000357654.7:c.5391A>T	ENSP00000350283.3:p.Ser1797=
ENST00000461221.5:c.*5174A>T	ENSP00000418548.1:n.*5174A>T
ENST00000468300.5:c.2021-1433A>T	ENSP00000417148.1:n.2021-1433A>T
ENST00000471181.6:c.5454A>T	ENSP00000418960.2:p.Ser1818=
ENST00000491747.6:c.2079A>T	ENSP00000420705.2:p.Ser693=
ENST00000493795.5:c.5250A>T	ENSP00000418775.1:p.Ser1750=
ENST00000586385.5:c.321A>T	ENSP00000465818.1:p.Ser107=
ENST00000591534.5:c.864A>T	ENSP00000467329.1:p.Ser288=
ENST00000591849.5:c.90A>T	ENSP00000465347.1:p.Ser30=
NM_007294.3:c.5391A>T , LRG_292t1:c.5391A>T	NP_009225.1:p.Ser1797=
NM_007297.3:c.5250A>T	NP_009228.2:p.Ser1750=
NM_007298.3:c.2079A>T	NP_009229.2:p.Ser693=
NM_007299.3:c.2021-1433A>T	NP_009230.2:n.2021-1433A>T
NM_007300.3:c.5454A>T	NP_009231.2:p.Ser1818=
NR_027676.1:n.5527A>T
NM_007294.4:c.5391A>T MANE Select	NP_009225.1:p.Ser1797=
NM_007297.4:c.5250A>T	NP_009228.2:p.Ser1750=
NM_007299.4:c.2021-1433A>T	NP_009230.2:n.2021-1433A>T
NM_007300.4:c.5454A>T	NP_009231.2:p.Ser1818=
NR_027676.2:n.5568A>T