Canonical Allele Identifier: CA500143316

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825663
• ClinVar RCV Id: RCV001023950 ; RCV002551883
• dbSNP Id: rs766700840
• MyVariant Identifiers: chr17:g.41201204C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049187C>A , CM000679.2:g.43049187C>A	GRCh38
NC_000017.10:g.41201204C>A , CM000679.1:g.41201204C>A	GRCh37
NC_000017.9:g.38454730C>A	NCBI36
NG_005905.2:g.168797G>T , LRG_292:g.168797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5337G>T	ENSP00000417241.2:p.Leu1779=
ENST00000470026.6:c.5340G>T	ENSP00000419274.2:p.Leu1780=
ENST00000473961.6:c.5214G>T	ENSP00000420201.2:p.Leu1738=
ENST00000476777.6:c.5334G>T	ENSP00000417554.2:p.Leu1778=
ENST00000477152.6:c.5262G>T	ENSP00000419988.2:p.Leu1754=
ENST00000478531.6:c.2028G>T	ENSP00000420412.2:p.Leu676=
ENST00000489037.2:c.5262G>T	ENSP00000420781.2:p.Leu1754=
ENST00000493919.6:c.1890G>T	ENSP00000418819.2:p.Leu630=
ENST00000494123.6:c.5340G>T	ENSP00000419103.2:p.Leu1780=
ENST00000497488.2:c.4452G>T	ENSP00000418986.2:p.Leu1484=
ENST00000618469.2:c.5340G>T	ENSP00000478114.2:p.Leu1780=
ENST00000634433.2:c.5217G>T	ENSP00000489431.2:p.Leu1739=
ENST00000644379.2:c.5406G>T	ENSP00000496570.2:p.Leu1802=
ENST00000644555.2:c.1890G>T	ENSP00000494614.2:p.Leu630=
ENST00000652672.2:c.5199G>T	ENSP00000498906.2:p.Leu1733=
ENST00000484087.6:c.1902G>T	ENSP00000419481.2:p.Leu634=
ENST00000700081.1:n.1223G>T
ENST00000357654.9:c.5340G>T MANE Select	ENSP00000350283.3:p.Leu1780=
ENST00000471181.7:c.5403G>T	ENSP00000418960.2:p.Leu1801=
ENST00000644379.1:c.1727G>T
ENST00000352993.7:c.1914G>T	ENSP00000312236.5:p.Leu638=
ENST00000357654.7:c.5340G>T	ENSP00000350283.3:p.Leu1780=
ENST00000461221.5:c.*5123G>T	ENSP00000418548.1:n.*5123G>T
ENST00000468300.5:c.2021-1484G>T	ENSP00000417148.1:n.2021-1484G>T
ENST00000471181.6:c.5403G>T	ENSP00000418960.2:p.Leu1801=
ENST00000491747.6:c.2028G>T	ENSP00000420705.2:p.Leu676=
ENST00000493795.5:c.5199G>T	ENSP00000418775.1:p.Leu1733=
ENST00000586385.5:c.270G>T	ENSP00000465818.1:p.Leu90=
ENST00000591534.5:c.813G>T	ENSP00000467329.1:p.Leu271=
ENST00000591849.5:c.39G>T	ENSP00000465347.1:p.Leu13=
NM_007294.3:c.5340G>T , LRG_292t1:c.5340G>T	NP_009225.1:p.Leu1780=
NM_007297.3:c.5199G>T	NP_009228.2:p.Leu1733=
NM_007298.3:c.2028G>T	NP_009229.2:p.Leu676=
NM_007299.3:c.2021-1484G>T	NP_009230.2:n.2021-1484G>T
NM_007300.3:c.5403G>T	NP_009231.2:p.Leu1801=
NR_027676.1:n.5476G>T
NM_007294.4:c.5340G>T MANE Select	NP_009225.1:p.Leu1780=
NM_007297.4:c.5199G>T	NP_009228.2:p.Leu1733=
NM_007299.4:c.2021-1484G>T	NP_009230.2:n.2021-1484G>T
NM_007300.4:c.5403G>T	NP_009231.2:p.Leu1801=
NR_027676.2:n.5517G>T