Canonical Allele Identifier: CA003860

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55696
• ClinVar RCV Id: RCV000049127 ; RCV000112784 ; RCV000216393 ; RCV000758847 ; RCV002247448
• dbSNP Id: rs80357225
• MyVariant Identifiers: chr17:g.41246775G>C (hg19) ; chr17:g.43094758G>C (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094758G>C , CM000679.2:g.43094758G>C	GRCh38
NC_000017.10:g.41246775G>C , CM000679.1:g.41246775G>C	GRCh37
NC_000017.9:g.38500301G>C	NCBI36
NG_005905.2:g.123226C>G , LRG_292:g.123226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.837C>G
ENST00000461574.2:c.773C>G	ENSP00000417241.2:p.Pro258Arg
ENST00000470026.6:c.773C>G	ENSP00000419274.2:p.Pro258Arg
ENST00000473961.6:c.647C>G	ENSP00000420201.2:p.Pro216Arg
ENST00000476777.6:c.770C>G	ENSP00000417554.2:p.Pro257Arg
ENST00000477152.6:c.695C>G	ENSP00000419988.2:p.Pro232Arg
ENST00000478531.6:c.770C>G	ENSP00000420412.2:p.Pro257Arg
ENST00000489037.2:c.695C>G	ENSP00000420781.2:p.Pro232Arg
ENST00000493919.6:c.632C>G	ENSP00000418819.2:p.Pro211Arg
ENST00000494123.6:c.773C>G	ENSP00000419103.2:p.Pro258Arg
ENST00000497488.2:c.-116C>G	ENSP00000418986.2:n.-116C>G
ENST00000618469.2:c.773C>G	ENSP00000478114.2:p.Pro258Arg
ENST00000634433.2:c.650C>G	ENSP00000489431.2:p.Pro217Arg
ENST00000644379.2:c.773C>G	ENSP00000496570.2:p.Pro258Arg
ENST00000644555.2:c.632C>G	ENSP00000494614.2:p.Pro211Arg
ENST00000652672.2:c.632C>G	ENSP00000498906.2:p.Pro211Arg
ENST00000484087.6:c.650C>G	ENSP00000419481.2:p.Pro217Arg
ENST00000700182.1:c.692C>G	ENSP00000514849.1:p.Pro231Arg
ENST00000700183.1:c.*781C>G	ENSP00000514850.1:n.*781C>G
ENST00000357654.9:c.773C>G MANE Select	ENSP00000350283.3:p.Pro258Arg
ENST00000471181.7:c.773C>G	ENSP00000418960.2:p.Pro258Arg
ENST00000642945.1:c.*647C>G	ENSP00000495897.1:n.*647C>G
ENST00000652672.1:c.632C>G	ENSP00000498906.1:p.Pro211Arg
ENST00000352993.7:c.670+1088C>G	ENSP00000312236.5:n.670+1088C>G
ENST00000354071.7:c.773C>G	ENSP00000326002.7:p.Pro258Arg
ENST00000357654.7:c.773C>G	ENSP00000350283.3:p.Pro258Arg
ENST00000412061.3:c.124C>G
ENST00000461221.5:c.*556C>G	ENSP00000418548.1:n.*556C>G
ENST00000468300.5:c.773C>G	ENSP00000417148.1:p.Pro258Arg
ENST00000470026.5:c.773C>G	ENSP00000419274.1:p.Pro258Arg
ENST00000471181.6:c.773C>G	ENSP00000418960.2:p.Pro258Arg
ENST00000473961.5:c.370C>G
ENST00000477152.5:c.695C>G	ENSP00000419988.1:p.Pro232Arg
ENST00000478531.5:c.770C>G	ENSP00000420412.1:p.Pro257Arg
ENST00000484087.5:c.395C>G	ENSP00000419481.1:p.Pro132Arg
ENST00000487825.5:c.398C>G	ENSP00000418212.1:p.Pro133Arg
ENST00000491747.6:c.773C>G	ENSP00000420705.2:p.Pro258Arg
ENST00000492859.5:c.*709C>G	ENSP00000420253.1:n.*709C>G
ENST00000493795.5:c.632C>G	ENSP00000418775.1:p.Pro211Arg
ENST00000493919.5:c.632C>G	ENSP00000418819.1:p.Pro211Arg
ENST00000494123.5:c.773C>G	ENSP00000419103.1:p.Pro258Arg
ENST00000497488.1:c.-116C>G	ENSP00000418986.1:n.-116C>G
ENST00000586385.5:c.4+30424C>G	ENSP00000465818.1:n.4+30424C>G
ENST00000591534.5:c.-43-20237C>G	ENSP00000467329.1:n.-43-20237C>G
ENST00000591849.5:c.-99+30513C>G	ENSP00000465347.1:n.-99+30513C>G
ENST00000634433.1:c.650C>G	ENSP00000489431.1:p.Pro217Arg
NM_007294.3:c.773C>G , LRG_292t1:c.773C>G	NP_009225.1:p.Pro258Arg
NM_007297.3:c.632C>G	NP_009228.2:p.Pro211Arg
NM_007298.3:c.773C>G	NP_009229.2:p.Pro258Arg
NM_007299.3:c.773C>G	NP_009230.2:p.Pro258Arg
NM_007300.3:c.773C>G	NP_009231.2:p.Pro258Arg
NR_027676.1:n.909C>G
NM_007294.4:c.773C>G MANE Select	NP_009225.1:p.Pro258Arg
NM_007297.4:c.632C>G	NP_009228.2:p.Pro211Arg
NM_007299.4:c.773C>G	NP_009230.2:p.Pro258Arg
NM_007300.4:c.773C>G	NP_009231.2:p.Pro258Arg
NR_027676.2:n.950C>G