Canonical Allele Identifier: CA000894

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54215
• ClinVar RCV Id: RCV000047434 ; RCV000111858 ; RCV000571550 ; RCV001725961
• dbSNP Id: rs80358158
• MyVariant Identifiers: chr17:g.41258551C>G (hg19) ; chr17:g.43106534C>G (hg38)
• PubMed: PMID:9333265 ; PMID:16683254 ; PMID:23239986

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43106534C>G , CM000679.2:g.43106534C>G	GRCh38
NC_000017.10:g.41258551C>G , CM000679.1:g.41258551C>G	GRCh37
NC_000017.9:g.38512077C>G	NCBI36
NG_005905.2:g.111450G>C , LRG_292:g.111450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.199-1G>C
ENST00000461574.2:c.135-1G>C	ENSP00000417241.2:n.135-1G>C
ENST00000470026.6:c.135-1G>C	ENSP00000419274.2:n.135-1G>C
ENST00000473961.6:c.135-1G>C	ENSP00000420201.2:n.135-1G>C
ENST00000476777.6:c.135-1G>C	ENSP00000417554.2:n.135-1G>C
ENST00000477152.6:c.135-1578G>C	ENSP00000419988.2:n.135-1578G>C
ENST00000478531.6:c.135-1G>C	ENSP00000420412.2:n.135-1G>C
ENST00000489037.2:c.135-1578G>C	ENSP00000420781.2:n.135-1578G>C
ENST00000493919.6:c.-7-1G>C	ENSP00000418819.2:n.-7-1G>C
ENST00000494123.6:c.135-1G>C	ENSP00000419103.2:n.135-1G>C
ENST00000497488.2:c.-218-11674G>C	ENSP00000418986.2:n.-218-11674G>C
ENST00000618469.2:c.135-1G>C	ENSP00000478114.2:n.135-1G>C
ENST00000634433.2:c.135-1G>C	ENSP00000489431.2:n.135-1G>C
ENST00000644379.2:c.135-1G>C	ENSP00000496570.2:n.135-1G>C
ENST00000644555.2:c.-7-1G>C	ENSP00000494614.2:n.-7-1G>C
ENST00000652672.2:c.-7-1G>C	ENSP00000498906.2:n.-7-1G>C
ENST00000484087.6:c.135-1G>C	ENSP00000419481.2:n.135-1G>C
ENST00000700182.1:c.135-1578G>C	ENSP00000514849.1:n.135-1578G>C
ENST00000700183.1:c.*71-1G>C	ENSP00000514850.1:n.*71-1G>C
ENST00000700184.1:n.378-1G>C
ENST00000357654.9:c.135-1G>C MANE Select	ENSP00000350283.3:n.135-1G>C
ENST00000471181.7:c.135-1G>C	ENSP00000418960.2:n.135-1G>C
ENST00000642945.1:c.*9-1G>C	ENSP00000495897.1:n.*9-1G>C
ENST00000644555.1:c.-7-1G>C	ENSP00000494614.1:n.-7-1G>C
ENST00000652672.1:c.-7-1G>C	ENSP00000498906.1:n.-7-1G>C
ENST00000352993.7:c.135-1G>C	ENSP00000312236.5:n.135-1G>C
ENST00000354071.7:c.135-1G>C	ENSP00000326002.7:n.135-1G>C
ENST00000357654.7:c.135-1G>C	ENSP00000350283.3:n.135-1G>C
ENST00000461221.5:c.135-1G>C	ENSP00000418548.1:n.135-1G>C
ENST00000461798.5:c.135-1G>C	ENSP00000417988.1:n.135-1G>C
ENST00000468300.5:c.135-1G>C	ENSP00000417148.1:n.135-1G>C
ENST00000470026.5:c.135-1G>C	ENSP00000419274.1:n.135-1G>C
ENST00000471181.6:c.135-1G>C	ENSP00000418960.2:n.135-1G>C
ENST00000476777.5:c.135-1G>C	ENSP00000417554.1:n.135-1G>C
ENST00000477152.5:c.135-1578G>C	ENSP00000419988.1:n.135-1578G>C
ENST00000478531.5:c.135-1G>C	ENSP00000420412.1:n.135-1G>C
ENST00000489037.1:c.135-1578G>C	ENSP00000420781.1:n.135-1578G>C
ENST00000491747.6:c.135-1G>C	ENSP00000420705.2:n.135-1G>C
ENST00000492859.5:c.*71-1G>C	ENSP00000420253.1:n.*71-1G>C
ENST00000493795.5:c.-7-1G>C	ENSP00000418775.1:n.-7-1G>C
ENST00000493919.5:c.-7-1G>C	ENSP00000418819.1:n.-7-1G>C
ENST00000494123.5:c.135-1G>C	ENSP00000419103.1:n.135-1G>C
ENST00000497488.1:c.-218-11674G>C	ENSP00000418986.1:n.-218-11674G>C
ENST00000586385.5:c.4+18648G>C	ENSP00000465818.1:n.4+18648G>C
ENST00000591534.5:c.-44+18737G>C	ENSP00000467329.1:n.-44+18737G>C
ENST00000591849.5:c.-99+18737G>C	ENSP00000465347.1:n.-99+18737G>C
ENST00000634433.1:c.135-1G>C	ENSP00000489431.1:n.135-1G>C
NM_007294.3:c.135-1G>C , LRG_292t1:c.135-1G>C	NP_009225.1:n.135-1G>C
NM_007297.3:c.-7-1G>C	NP_009228.2:n.-7-1G>C
NM_007298.3:c.135-1G>C	NP_009229.2:n.135-1G>C
NM_007299.3:c.135-1G>C	NP_009230.2:n.135-1G>C
NM_007300.3:c.135-1G>C	NP_009231.2:n.135-1G>C
NR_027676.1:n.296-1G>C
NM_007294.4:c.135-1G>C MANE Select	NP_009225.1:n.135-1G>C
NM_007297.4:c.-7-1G>C	NP_009228.2:n.-7-1G>C
NM_007299.4:c.135-1G>C	NP_009230.2:n.135-1G>C
NM_007300.4:c.135-1G>C	NP_009231.2:n.135-1G>C
NR_027676.2:n.337-1G>C