Canonical Allele Identifier: CA000952

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54247
• ClinVar RCV Id: RCV000111876 ; RCV000775193 ; RCV000781002
• dbSNP Id: rs80357150
• MyVariant Identifiers: chr17:g.41258545C>A (hg19) ; chr17:g.43106528C>A (hg38)
• PubMed: PMID:11573085 ; PMID:12698193 ; PMID:12732733 ; PMID:15235020 ; PMID:16403807 ; PMID:21922593 ; PMID:22505045 ; PMID:26295337 ; PMID:27495310 ; PMID:28944232

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43106528C>A , CM000679.2:g.43106528C>A	GRCh38
NC_000017.10:g.41258545C>A , CM000679.1:g.41258545C>A	GRCh37
NC_000017.9:g.38512071C>A	NCBI36
NG_005905.2:g.111456G>T , LRG_292:g.111456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.204G>T
ENST00000461574.2:c.140G>T	ENSP00000417241.2:p.Cys47Phe
ENST00000470026.6:c.140G>T	ENSP00000419274.2:p.Cys47Phe
ENST00000473961.6:c.140G>T	ENSP00000420201.2:p.Cys47Phe
ENST00000476777.6:c.140G>T	ENSP00000417554.2:p.Cys47Phe
ENST00000477152.6:c.135-1572G>T	ENSP00000419988.2:n.135-1572G>T
ENST00000478531.6:c.140G>T	ENSP00000420412.2:p.Cys47Phe
ENST00000489037.2:c.135-1572G>T	ENSP00000420781.2:n.135-1572G>T
ENST00000493919.6:c.-2G>T	ENSP00000418819.2:n.-2G>T
ENST00000494123.6:c.140G>T	ENSP00000419103.2:p.Cys47Phe
ENST00000497488.2:c.-218-11668G>T	ENSP00000418986.2:n.-218-11668G>T
ENST00000618469.2:c.140G>T	ENSP00000478114.2:p.Cys47Phe
ENST00000634433.2:c.140G>T	ENSP00000489431.2:p.Cys47Phe
ENST00000644379.2:c.140G>T	ENSP00000496570.2:p.Cys47Phe
ENST00000644555.2:c.-2G>T	ENSP00000494614.2:n.-2G>T
ENST00000652672.2:c.-2G>T	ENSP00000498906.2:n.-2G>T
ENST00000484087.6:c.140G>T	ENSP00000419481.2:p.Cys47Phe
ENST00000700182.1:c.135-1572G>T	ENSP00000514849.1:n.135-1572G>T
ENST00000700183.1:c.*76G>T	ENSP00000514850.1:n.*76G>T
ENST00000700184.1:n.383G>T
ENST00000357654.9:c.140G>T MANE Select	ENSP00000350283.3:p.Cys47Phe
ENST00000471181.7:c.140G>T	ENSP00000418960.2:p.Cys47Phe
ENST00000642945.1:c.*14G>T	ENSP00000495897.1:n.*14G>T
ENST00000644555.1:c.-2G>T	ENSP00000494614.1:n.-2G>T
ENST00000652672.1:c.-2G>T	ENSP00000498906.1:n.-2G>T
ENST00000352993.7:c.140G>T	ENSP00000312236.5:p.Cys47Phe
ENST00000354071.7:c.140G>T	ENSP00000326002.7:p.Cys47Phe
ENST00000357654.7:c.140G>T	ENSP00000350283.3:p.Cys47Phe
ENST00000461221.5:c.140G>T	ENSP00000418548.1:p.Cys47Phe
ENST00000461798.5:c.140G>T	ENSP00000417988.1:p.Cys47Phe
ENST00000468300.5:c.140G>T	ENSP00000417148.1:p.Cys47Phe
ENST00000470026.5:c.140G>T	ENSP00000419274.1:p.Cys47Phe
ENST00000471181.6:c.140G>T	ENSP00000418960.2:p.Cys47Phe
ENST00000476777.5:c.140G>T	ENSP00000417554.1:p.Cys47Phe
ENST00000477152.5:c.135-1572G>T	ENSP00000419988.1:n.135-1572G>T
ENST00000478531.5:c.140G>T	ENSP00000420412.1:p.Cys47Phe
ENST00000489037.1:c.135-1572G>T	ENSP00000420781.1:n.135-1572G>T
ENST00000491747.6:c.140G>T	ENSP00000420705.2:p.Cys47Phe
ENST00000492859.5:c.*76G>T	ENSP00000420253.1:n.*76G>T
ENST00000493795.5:c.-2G>T	ENSP00000418775.1:n.-2G>T
ENST00000493919.5:c.-2G>T	ENSP00000418819.1:n.-2G>T
ENST00000494123.5:c.140G>T	ENSP00000419103.1:p.Cys47Phe
ENST00000497488.1:c.-218-11668G>T	ENSP00000418986.1:n.-218-11668G>T
ENST00000586385.5:c.4+18654G>T	ENSP00000465818.1:n.4+18654G>T
ENST00000591534.5:c.-44+18743G>T	ENSP00000467329.1:n.-44+18743G>T
ENST00000591849.5:c.-99+18743G>T	ENSP00000465347.1:n.-99+18743G>T
ENST00000634433.1:c.140G>T	ENSP00000489431.1:p.Cys47Phe
NM_007294.3:c.140G>T , LRG_292t1:c.140G>T	NP_009225.1:p.Cys47Phe
NM_007297.3:c.-2G>T	NP_009228.2:n.-2G>T
NM_007298.3:c.140G>T	NP_009229.2:p.Cys47Phe
NM_007299.3:c.140G>T	NP_009230.2:p.Cys47Phe
NM_007300.3:c.140G>T	NP_009231.2:p.Cys47Phe
NR_027676.1:n.301G>T
NM_007294.4:c.140G>T MANE Select	NP_009225.1:p.Cys47Phe
NM_007297.4:c.-2G>T	NP_009228.2:n.-2G>T
NM_007299.4:c.140G>T	NP_009230.2:p.Cys47Phe
NM_007300.4:c.140G>T	NP_009231.2:p.Cys47Phe
NR_027676.2:n.342G>T