Canonical Allele Identifier: CA003501

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55538
• ClinVar RCV Id: RCV000577734 ; RCV001076823 ; RCV000580810 ; RCV001800366 ; RCV001367051
• dbSNP Id: rs397509266
• MyVariant Identifiers: chr17:g.41201217A>C (hg19) ; chr17:g.43049200A>C (hg38)
• PubMed: PMID:11802209

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049200A>C , CM000679.2:g.43049200A>C	GRCh38
NC_000017.10:g.41201217A>C , CM000679.1:g.41201217A>C	GRCh37
NC_000017.9:g.38454743A>C	NCBI36
NG_005905.2:g.168784T>G , LRG_292:g.168784T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-6T>G	ENSP00000417241.2:n.5330-6T>G
ENST00000470026.6:c.5333-6T>G	ENSP00000419274.2:n.5333-6T>G
ENST00000473961.6:c.5207-6T>G	ENSP00000420201.2:n.5207-6T>G
ENST00000476777.6:c.5327-6T>G	ENSP00000417554.2:n.5327-6T>G
ENST00000477152.6:c.5255-6T>G	ENSP00000419988.2:n.5255-6T>G
ENST00000478531.6:c.2021-6T>G	ENSP00000420412.2:n.2021-6T>G
ENST00000489037.2:c.5255-6T>G	ENSP00000420781.2:n.5255-6T>G
ENST00000493919.6:c.1883-6T>G	ENSP00000418819.2:n.1883-6T>G
ENST00000494123.6:c.5333-6T>G	ENSP00000419103.2:n.5333-6T>G
ENST00000497488.2:c.4445-6T>G	ENSP00000418986.2:n.4445-6T>G
ENST00000618469.2:c.5333-6T>G	ENSP00000478114.2:n.5333-6T>G
ENST00000634433.2:c.5210-6T>G	ENSP00000489431.2:n.5210-6T>G
ENST00000644379.2:c.5399-6T>G	ENSP00000496570.2:n.5399-6T>G
ENST00000644555.2:c.1883-6T>G	ENSP00000494614.2:n.1883-6T>G
ENST00000652672.2:c.5192-6T>G	ENSP00000498906.2:n.5192-6T>G
ENST00000484087.6:c.1895-6T>G	ENSP00000419481.2:n.1895-6T>G
ENST00000700081.1:n.1210T>G
ENST00000357654.9:c.5333-6T>G MANE Select	ENSP00000350283.3:n.5333-6T>G
ENST00000471181.7:c.5396-6T>G	ENSP00000418960.2:n.5396-6T>G
ENST00000644379.1:c.1720-6T>G
ENST00000352993.7:c.1907-6T>G	ENSP00000312236.5:n.1907-6T>G
ENST00000357654.7:c.5333-6T>G	ENSP00000350283.3:n.5333-6T>G
ENST00000461221.5:c.*5116-6T>G	ENSP00000418548.1:n.*5116-6T>G
ENST00000468300.5:c.2021-1497T>G	ENSP00000417148.1:n.2021-1497T>G
ENST00000471181.6:c.5396-6T>G	ENSP00000418960.2:n.5396-6T>G
ENST00000491747.6:c.2021-6T>G	ENSP00000420705.2:n.2021-6T>G
ENST00000493795.5:c.5192-6T>G	ENSP00000418775.1:n.5192-6T>G
ENST00000586385.5:c.263-6T>G	ENSP00000465818.1:n.263-6T>G
ENST00000591534.5:c.806-6T>G	ENSP00000467329.1:n.806-6T>G
ENST00000591849.5:c.32-6T>G	ENSP00000465347.1:n.32-6T>G
NM_007294.3:c.5333-6T>G , LRG_292t1:c.5333-6T>G	NP_009225.1:n.5333-6T>G
NM_007297.3:c.5192-6T>G	NP_009228.2:n.5192-6T>G
NM_007298.3:c.2021-6T>G	NP_009229.2:n.2021-6T>G
NM_007299.3:c.2021-1497T>G	NP_009230.2:n.2021-1497T>G
NM_007300.3:c.5396-6T>G	NP_009231.2:n.5396-6T>G
NR_027676.1:n.5469-6T>G
NM_007294.4:c.5333-6T>G MANE Select	NP_009225.1:n.5333-6T>G
NM_007297.4:c.5192-6T>G	NP_009228.2:n.5192-6T>G
NM_007299.4:c.2021-1497T>G	NP_009230.2:n.2021-1497T>G
NM_007300.4:c.5396-6T>G	NP_009231.2:n.5396-6T>G
NR_027676.2:n.5510-6T>G