Canonical Allele Identifier: CA003578

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142988
• ClinVar RCV Id: RCV000132500 ; RCV001076053
• dbSNP Id: rs587782873
• gnomAD v4: 17-43047697-G-A
• MyVariant Identifiers: chr17:g.41199714G>A (hg19) ; chr17:g.43047697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047697G>A , CM000679.2:g.43047697G>A	GRCh38
NC_000017.10:g.41199714G>A , CM000679.1:g.41199714G>A	GRCh37
NC_000017.9:g.38453240G>A	NCBI36
NG_005905.2:g.170287C>T , LRG_292:g.170287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5410C>T	ENSP00000417241.2:p.His1804Tyr
ENST00000470026.6:c.5413C>T	ENSP00000419274.2:p.His1805Tyr
ENST00000473961.6:c.5287C>T	ENSP00000420201.2:p.His1763Tyr
ENST00000476777.6:c.5407C>T	ENSP00000417554.2:p.His1803Tyr
ENST00000477152.6:c.5335C>T	ENSP00000419988.2:p.His1779Tyr
ENST00000478531.6:c.2101C>T	ENSP00000420412.2:p.His701Tyr
ENST00000489037.2:c.5335C>T	ENSP00000420781.2:p.His1779Tyr
ENST00000493919.6:c.1963C>T	ENSP00000418819.2:p.His655Tyr
ENST00000494123.6:c.5413C>T	ENSP00000419103.2:p.His1805Tyr
ENST00000497488.2:c.4525C>T	ENSP00000418986.2:p.His1509Tyr
ENST00000618469.2:c.5413C>T	ENSP00000478114.2:p.His1805Tyr
ENST00000634433.2:c.5290C>T	ENSP00000489431.2:p.His1764Tyr
ENST00000644379.2:c.5479C>T	ENSP00000496570.2:p.His1827Tyr
ENST00000644555.2:c.1963C>T	ENSP00000494614.2:p.His655Tyr
ENST00000652672.2:c.5272C>T	ENSP00000498906.2:p.His1758Tyr
ENST00000484087.6:c.1975C>T	ENSP00000419481.2:p.His659Tyr
ENST00000700081.1:n.1296C>T
ENST00000700082.1:n.777C>T
ENST00000357654.9:c.5413C>T MANE Select	ENSP00000350283.3:p.His1805Tyr
ENST00000471181.7:c.5476C>T	ENSP00000418960.2:p.His1826Tyr
ENST00000644379.1:c.1800C>T
ENST00000352993.7:c.1987C>T	ENSP00000312236.5:p.His663Tyr
ENST00000357654.7:c.5413C>T	ENSP00000350283.3:p.His1805Tyr
ENST00000461221.5:c.*5196C>T	ENSP00000418548.1:n.*5196C>T
ENST00000468300.5:c.2027C>T	ENSP00000417148.1:p.Pro676Leu
ENST00000471181.6:c.5476C>T	ENSP00000418960.2:p.His1826Tyr
ENST00000491747.6:c.2101C>T	ENSP00000420705.2:p.His701Tyr
ENST00000493795.5:c.5272C>T	ENSP00000418775.1:p.His1758Tyr
ENST00000586385.5:c.343C>T	ENSP00000465818.1:p.His115Tyr
ENST00000591534.5:c.886C>T	ENSP00000467329.1:p.His296Tyr
ENST00000591849.5:c.112C>T	ENSP00000465347.1:p.His38Tyr
NM_007294.3:c.5413C>T , LRG_292t1:c.5413C>T	NP_009225.1:p.His1805Tyr
NM_007297.3:c.5272C>T	NP_009228.2:p.His1758Tyr
NM_007298.3:c.2101C>T	NP_009229.2:p.His701Tyr
NM_007299.3:c.2027C>T	NP_009230.2:p.Pro676Leu
NM_007300.3:c.5476C>T	NP_009231.2:p.His1826Tyr
NR_027676.1:n.5549C>T
NM_007294.4:c.5413C>T MANE Select	NP_009225.1:p.His1805Tyr
NM_007297.4:c.5272C>T	NP_009228.2:p.His1758Tyr
NM_007299.4:c.2027C>T	NP_009230.2:p.Pro676Leu
NM_007300.4:c.5476C>T	NP_009231.2:p.His1826Tyr
NR_027676.2:n.5590C>T