Canonical Allele Identifier: CA10593142

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1739401
• ClinVar RCV Id: RCV002330176
• dbSNP Id: rs1597847973
• MyVariant Identifiers: chr17:g.41234489G>C (hg19) ; chr17:g.43082472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082472G>C , CM000679.2:g.43082472G>C	GRCh38
NC_000017.10:g.41234489G>C , CM000679.1:g.41234489G>C	GRCh37
NC_000017.9:g.38488015G>C	NCBI36
NG_005905.2:g.135512C>G , LRG_292:g.135512C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4289C>G	ENSP00000417241.2:p.Pro1430Arg
ENST00000470026.6:c.4289C>G	ENSP00000419274.2:p.Pro1430Arg
ENST00000473961.6:c.4163C>G	ENSP00000420201.2:p.Pro1388Arg
ENST00000476777.6:c.4283C>G	ENSP00000417554.2:p.Pro1428Arg
ENST00000477152.6:c.4211C>G	ENSP00000419988.2:p.Pro1404Arg
ENST00000478531.6:c.977C>G	ENSP00000420412.2:p.Pro326Arg
ENST00000489037.2:c.4211C>G	ENSP00000420781.2:p.Pro1404Arg
ENST00000493919.6:c.839C>G	ENSP00000418819.2:p.Pro280Arg
ENST00000494123.6:c.4289C>G	ENSP00000419103.2:p.Pro1430Arg
ENST00000497488.2:c.3401C>G	ENSP00000418986.2:p.Pro1134Arg
ENST00000618469.2:c.4289C>G	ENSP00000478114.2:p.Pro1430Arg
ENST00000634433.2:c.4166C>G	ENSP00000489431.2:p.Pro1389Arg
ENST00000644379.2:c.4289C>G	ENSP00000496570.2:p.Pro1430Arg
ENST00000644555.2:c.839C>G	ENSP00000494614.2:p.Pro280Arg
ENST00000652672.2:c.4148C>G	ENSP00000498906.2:p.Pro1383Arg
ENST00000484087.6:c.854C>G	ENSP00000419481.2:p.Pro285Arg
ENST00000700182.1:c.899C>G	ENSP00000514849.1:p.Pro300Arg
ENST00000357654.9:c.4289C>G MANE Select	ENSP00000350283.3:p.Pro1430Arg
ENST00000471181.7:c.4289C>G	ENSP00000418960.2:p.Pro1430Arg
ENST00000644379.1:c.610C>G
ENST00000352993.7:c.863C>G	ENSP00000312236.5:p.Pro288Arg
ENST00000357654.7:c.4289C>G	ENSP00000350283.3:p.Pro1430Arg
ENST00000461221.5:c.*4072C>G	ENSP00000418548.1:n.*4072C>G
ENST00000461574.1:c.583C>G
ENST00000468300.5:c.980C>G	ENSP00000417148.1:p.Pro327Arg
ENST00000471181.6:c.4289C>G	ENSP00000418960.2:p.Pro1430Arg
ENST00000478531.5:c.977C>G	ENSP00000420412.1:p.Pro326Arg
ENST00000484087.5:c.602C>G	ENSP00000419481.1:p.Pro201Arg
ENST00000487825.5:c.605C>G	ENSP00000418212.1:p.Pro202Arg
ENST00000491747.6:c.980C>G	ENSP00000420705.2:p.Pro327Arg
ENST00000493795.5:c.4148C>G	ENSP00000418775.1:p.Pro1383Arg
ENST00000493919.5:c.839C>G	ENSP00000418819.1:p.Pro280Arg
ENST00000586385.5:c.5-18521C>G	ENSP00000465818.1:n.5-18521C>G
ENST00000591534.5:c.-43-7951C>G	ENSP00000467329.1:n.-43-7951C>G
ENST00000591849.5:c.-98-32282C>G	ENSP00000465347.1:n.-98-32282C>G
ENST00000621897.1:n.183C>G
NM_007294.3:c.4289C>G , LRG_292t1:c.4289C>G	NP_009225.1:p.Pro1430Arg
NM_007297.3:c.4148C>G	NP_009228.2:p.Pro1383Arg
NM_007298.3:c.980C>G	NP_009229.2:p.Pro327Arg
NM_007299.3:c.980C>G	NP_009230.2:p.Pro327Arg
NM_007300.3:c.4289C>G	NP_009231.2:p.Pro1430Arg
NR_027676.1:n.4425C>G
NM_007294.4:c.4289C>G MANE Select	NP_009225.1:p.Pro1430Arg
NM_007297.4:c.4148C>G	NP_009228.2:p.Pro1383Arg
NM_007299.4:c.980C>G	NP_009230.2:p.Pro327Arg
NM_007300.4:c.4289C>G	NP_009231.2:p.Pro1430Arg
NR_027676.2:n.4466C>G