Canonical Allele Identifier: CA10590428

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868519
• ClinVar RCV Id: RCV001077436
• dbSNP Id: rs2050976551
• COSMIC: COSM5587303 ; COSM5587304
• MyVariant Identifiers: chr17:g.41199663G>A (hg19) ; chr17:g.43047646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047646G>A , CM000679.2:g.43047646G>A	GRCh38
NC_000017.10:g.41199663G>A , CM000679.1:g.41199663G>A	GRCh37
NC_000017.9:g.38453189G>A	NCBI36
NG_005905.2:g.170338C>T , LRG_292:g.170338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5461C>T	ENSP00000417241.2:p.His1821Tyr
ENST00000470026.6:c.5464C>T	ENSP00000419274.2:p.His1822Tyr
ENST00000473961.6:c.5338C>T	ENSP00000420201.2:p.His1780Tyr
ENST00000476777.6:c.5458C>T	ENSP00000417554.2:p.His1820Tyr
ENST00000477152.6:c.5386C>T	ENSP00000419988.2:p.His1796Tyr
ENST00000478531.6:c.2152C>T	ENSP00000420412.2:p.His718Tyr
ENST00000489037.2:c.5386C>T	ENSP00000420781.2:p.His1796Tyr
ENST00000493919.6:c.2014C>T	ENSP00000418819.2:p.His672Tyr
ENST00000494123.6:c.5464C>T	ENSP00000419103.2:p.His1822Tyr
ENST00000497488.2:c.4576C>T	ENSP00000418986.2:p.His1526Tyr
ENST00000618469.2:c.5464C>T	ENSP00000478114.2:p.His1822Tyr
ENST00000634433.2:c.5341C>T	ENSP00000489431.2:p.His1781Tyr
ENST00000644379.2:c.5530C>T	ENSP00000496570.2:p.His1844Tyr
ENST00000644555.2:c.2014C>T	ENSP00000494614.2:p.His672Tyr
ENST00000652672.2:c.5323C>T	ENSP00000498906.2:p.His1775Tyr
ENST00000484087.6:c.2026C>T	ENSP00000419481.2:p.His676Tyr
ENST00000700081.1:n.1347C>T
ENST00000700082.1:n.828C>T
ENST00000357654.9:c.5464C>T MANE Select	ENSP00000350283.3:p.His1822Tyr
ENST00000471181.7:c.5527C>T	ENSP00000418960.2:p.His1843Tyr
ENST00000644379.1:c.1851C>T
ENST00000352993.7:c.2038C>T	ENSP00000312236.5:p.His680Tyr
ENST00000357654.7:c.5464C>T	ENSP00000350283.3:p.His1822Tyr
ENST00000461221.5:c.*5247C>T	ENSP00000418548.1:n.*5247C>T
ENST00000468300.5:c.2078C>T	ENSP00000417148.1:p.Pro693Leu
ENST00000471181.6:c.5527C>T	ENSP00000418960.2:p.His1843Tyr
ENST00000491747.6:c.2152C>T	ENSP00000420705.2:p.His718Tyr
ENST00000493795.5:c.5323C>T	ENSP00000418775.1:p.His1775Tyr
ENST00000586385.5:c.394C>T	ENSP00000465818.1:p.His132Tyr
ENST00000591534.5:c.937C>T	ENSP00000467329.1:p.His313Tyr
ENST00000591849.5:c.163C>T	ENSP00000465347.1:p.His55Tyr
NM_007294.3:c.5464C>T , LRG_292t1:c.5464C>T	NP_009225.1:p.His1822Tyr
NM_007297.3:c.5323C>T	NP_009228.2:p.His1775Tyr
NM_007298.3:c.2152C>T	NP_009229.2:p.His718Tyr
NM_007299.3:c.2078C>T	NP_009230.2:p.Pro693Leu
NM_007300.3:c.5527C>T	NP_009231.2:p.His1843Tyr
NR_027676.1:n.5600C>T
NM_007294.4:c.5464C>T MANE Select	NP_009225.1:p.His1822Tyr
NM_007297.4:c.5323C>T	NP_009228.2:p.His1775Tyr
NM_007299.4:c.2078C>T	NP_009230.2:p.Pro693Leu
NM_007300.4:c.5527C>T	NP_009231.2:p.His1843Tyr
NR_027676.2:n.5641C>T