Canonical Allele Identifier: CA10590635

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867377
• ClinVar RCV Id: RCV001076052
• dbSNP Id: rs587782873
• MyVariant Identifiers: chr17:g.41199714G>C (hg19) ; chr17:g.43047697G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5410C>G	ENSP00000417241.2:p.His1804Asp
ENST00000470026.6:c.5413C>G	ENSP00000419274.2:p.His1805Asp
ENST00000473961.6:c.5287C>G	ENSP00000420201.2:p.His1763Asp
ENST00000476777.6:c.5407C>G	ENSP00000417554.2:p.His1803Asp
ENST00000477152.6:c.5335C>G	ENSP00000419988.2:p.His1779Asp
ENST00000478531.6:c.2101C>G	ENSP00000420412.2:p.His701Asp
ENST00000489037.2:c.5335C>G	ENSP00000420781.2:p.His1779Asp
ENST00000493919.6:c.1963C>G	ENSP00000418819.2:p.His655Asp
ENST00000494123.6:c.5413C>G	ENSP00000419103.2:p.His1805Asp
ENST00000497488.2:c.4525C>G	ENSP00000418986.2:p.His1509Asp
ENST00000618469.2:c.5413C>G	ENSP00000478114.2:p.His1805Asp
ENST00000634433.2:c.5290C>G	ENSP00000489431.2:p.His1764Asp
ENST00000644379.2:c.5479C>G	ENSP00000496570.2:p.His1827Asp
ENST00000644555.2:c.1963C>G	ENSP00000494614.2:p.His655Asp
ENST00000652672.2:c.5272C>G	ENSP00000498906.2:p.His1758Asp
ENST00000484087.6:c.1975C>G	ENSP00000419481.2:p.His659Asp
ENST00000700081.1:n.1296C>G
ENST00000700082.1:n.777C>G
ENST00000357654.9:c.5413C>G MANE Select	ENSP00000350283.3:p.His1805Asp
ENST00000471181.7:c.5476C>G	ENSP00000418960.2:p.His1826Asp
ENST00000644379.1:c.1800C>G
ENST00000352993.7:c.1987C>G	ENSP00000312236.5:p.His663Asp
ENST00000357654.7:c.5413C>G	ENSP00000350283.3:p.His1805Asp
ENST00000461221.5:c.*5196C>G	ENSP00000418548.1:n.*5196C>G
ENST00000468300.5:c.2027C>G	ENSP00000417148.1:p.Pro676Arg
ENST00000471181.6:c.5476C>G	ENSP00000418960.2:p.His1826Asp
ENST00000491747.6:c.2101C>G	ENSP00000420705.2:p.His701Asp
ENST00000493795.5:c.5272C>G	ENSP00000418775.1:p.His1758Asp
ENST00000586385.5:c.343C>G	ENSP00000465818.1:p.His115Asp
ENST00000591534.5:c.886C>G	ENSP00000467329.1:p.His296Asp
ENST00000591849.5:c.112C>G	ENSP00000465347.1:p.His38Asp
NM_007294.3:c.5413C>G , LRG_292t1:c.5413C>G	NP_009225.1:p.His1805Asp
NM_007297.3:c.5272C>G	NP_009228.2:p.His1758Asp
NM_007298.3:c.2101C>G	NP_009229.2:p.His701Asp
NM_007299.3:c.2027C>G	NP_009230.2:p.Pro676Arg
NM_007300.3:c.5476C>G	NP_009231.2:p.His1826Asp
NR_027676.1:n.5549C>G
NM_007294.4:c.5413C>G MANE Select	NP_009225.1:p.His1805Asp
NM_007297.4:c.5272C>G	NP_009228.2:p.His1758Asp
NM_007299.4:c.2027C>G	NP_009230.2:p.Pro676Arg
NM_007300.4:c.5476C>G	NP_009231.2:p.His1826Asp
NR_027676.2:n.5590C>G