Canonical Allele Identifier: CA10590427

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868520
• ClinVar RCV Id: RCV001077437
• dbSNP Id: rs2050976068
• MyVariant Identifiers: chr17:g.41199662T>G (hg19) ; chr17:g.43047645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047645T>G , CM000679.2:g.43047645T>G	GRCh38
NC_000017.10:g.41199662T>G , CM000679.1:g.41199662T>G	GRCh37
NC_000017.9:g.38453188T>G	NCBI36
NG_005905.2:g.170339A>C , LRG_292:g.170339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5462A>C	ENSP00000417241.2:p.His1821Pro
ENST00000470026.6:c.5465A>C	ENSP00000419274.2:p.His1822Pro
ENST00000473961.6:c.5339A>C	ENSP00000420201.2:p.His1780Pro
ENST00000476777.6:c.5459A>C	ENSP00000417554.2:p.His1820Pro
ENST00000477152.6:c.5387A>C	ENSP00000419988.2:p.His1796Pro
ENST00000478531.6:c.2153A>C	ENSP00000420412.2:p.His718Pro
ENST00000489037.2:c.5387A>C	ENSP00000420781.2:p.His1796Pro
ENST00000493919.6:c.2015A>C	ENSP00000418819.2:p.His672Pro
ENST00000494123.6:c.5465A>C	ENSP00000419103.2:p.His1822Pro
ENST00000497488.2:c.4577A>C	ENSP00000418986.2:p.His1526Pro
ENST00000618469.2:c.5465A>C	ENSP00000478114.2:p.His1822Pro
ENST00000634433.2:c.5342A>C	ENSP00000489431.2:p.His1781Pro
ENST00000644379.2:c.5531A>C	ENSP00000496570.2:p.His1844Pro
ENST00000644555.2:c.2015A>C	ENSP00000494614.2:p.His672Pro
ENST00000652672.2:c.5324A>C	ENSP00000498906.2:p.His1775Pro
ENST00000484087.6:c.2027A>C	ENSP00000419481.2:p.His676Pro
ENST00000700081.1:n.1348A>C
ENST00000700082.1:n.829A>C
ENST00000357654.9:c.5465A>C MANE Select	ENSP00000350283.3:p.His1822Pro
ENST00000471181.7:c.5528A>C	ENSP00000418960.2:p.His1843Pro
ENST00000644379.1:c.1852A>C
ENST00000352993.7:c.2039A>C	ENSP00000312236.5:p.His680Pro
ENST00000357654.7:c.5465A>C	ENSP00000350283.3:p.His1822Pro
ENST00000461221.5:c.*5248A>C	ENSP00000418548.1:n.*5248A>C
ENST00000468300.5:c.2079A>C	ENSP00000417148.1:p.Pro693=
ENST00000471181.6:c.5528A>C	ENSP00000418960.2:p.His1843Pro
ENST00000491747.6:c.2153A>C	ENSP00000420705.2:p.His718Pro
ENST00000493795.5:c.5324A>C	ENSP00000418775.1:p.His1775Pro
ENST00000586385.5:c.395A>C	ENSP00000465818.1:p.His132Pro
ENST00000591534.5:c.938A>C	ENSP00000467329.1:p.His313Pro
ENST00000591849.5:c.164A>C	ENSP00000465347.1:p.His55Pro
NM_007294.3:c.5465A>C , LRG_292t1:c.5465A>C	NP_009225.1:p.His1822Pro
NM_007297.3:c.5324A>C	NP_009228.2:p.His1775Pro
NM_007298.3:c.2153A>C	NP_009229.2:p.His718Pro
NM_007299.3:c.2079A>C	NP_009230.2:p.Pro693=
NM_007300.3:c.5528A>C	NP_009231.2:p.His1843Pro
NR_027676.1:n.5601A>C
NM_007294.4:c.5465A>C MANE Select	NP_009225.1:p.His1822Pro
NM_007297.4:c.5324A>C	NP_009228.2:p.His1775Pro
NM_007299.4:c.2079A>C	NP_009230.2:p.Pro693=
NM_007300.4:c.5528A>C	NP_009231.2:p.His1843Pro
NR_027676.2:n.5642A>C