Canonical Allele Identifier: CA000957

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91553
• ClinVar RCV Id: RCV000077070 ; RCV000801060
• dbSNP Id: rs398122635
• gnomAD v4: 17-43106527-G-T
• MyVariant Identifiers: chr17:g.41258544G>T (hg19) ; chr17:g.43106527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43106527G>T , CM000679.2:g.43106527G>T	GRCh38
NC_000017.10:g.41258544G>T , CM000679.1:g.41258544G>T	GRCh37
NC_000017.9:g.38512070G>T	NCBI36
NG_005905.2:g.111457C>A , LRG_292:g.111457C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.205C>A
ENST00000461574.2:c.141C>A	ENSP00000417241.2:p.Cys47Ter
ENST00000470026.6:c.141C>A	ENSP00000419274.2:p.Cys47Ter
ENST00000473961.6:c.141C>A	ENSP00000420201.2:p.Cys47Ter
ENST00000476777.6:c.141C>A	ENSP00000417554.2:p.Cys47Ter
ENST00000477152.6:c.135-1571C>A	ENSP00000419988.2:n.135-1571C>A
ENST00000478531.6:c.141C>A	ENSP00000420412.2:p.Cys47Ter
ENST00000489037.2:c.135-1571C>A	ENSP00000420781.2:n.135-1571C>A
ENST00000493919.6:c.-1C>A	ENSP00000418819.2:n.-1C>A
ENST00000494123.6:c.141C>A	ENSP00000419103.2:p.Cys47Ter
ENST00000497488.2:c.-218-11667C>A	ENSP00000418986.2:n.-218-11667C>A
ENST00000618469.2:c.141C>A	ENSP00000478114.2:p.Cys47Ter
ENST00000634433.2:c.141C>A	ENSP00000489431.2:p.Cys47Ter
ENST00000644379.2:c.141C>A	ENSP00000496570.2:p.Cys47Ter
ENST00000644555.2:c.-1C>A	ENSP00000494614.2:n.-1C>A
ENST00000652672.2:c.-1C>A	ENSP00000498906.2:n.-1C>A
ENST00000484087.6:c.141C>A	ENSP00000419481.2:p.Cys47Ter
ENST00000700182.1:c.135-1571C>A	ENSP00000514849.1:n.135-1571C>A
ENST00000700183.1:c.*77C>A	ENSP00000514850.1:n.*77C>A
ENST00000700184.1:n.384C>A
ENST00000357654.9:c.141C>A MANE Select	ENSP00000350283.3:p.Cys47Ter
ENST00000471181.7:c.141C>A	ENSP00000418960.2:p.Cys47Ter
ENST00000642945.1:c.*15C>A	ENSP00000495897.1:n.*15C>A
ENST00000644555.1:c.-1C>A	ENSP00000494614.1:n.-1C>A
ENST00000652672.1:c.-1C>A	ENSP00000498906.1:n.-1C>A
ENST00000352993.7:c.141C>A	ENSP00000312236.5:p.Cys47Ter
ENST00000354071.7:c.141C>A	ENSP00000326002.7:p.Cys47Ter
ENST00000357654.7:c.141C>A	ENSP00000350283.3:p.Cys47Ter
ENST00000461221.5:c.141C>A	ENSP00000418548.1:p.Cys47Ter
ENST00000461798.5:c.141C>A	ENSP00000417988.1:p.Cys47Ter
ENST00000468300.5:c.141C>A	ENSP00000417148.1:p.Cys47Ter
ENST00000470026.5:c.141C>A	ENSP00000419274.1:p.Cys47Ter
ENST00000471181.6:c.141C>A	ENSP00000418960.2:p.Cys47Ter
ENST00000476777.5:c.141C>A	ENSP00000417554.1:p.Cys47Ter
ENST00000477152.5:c.135-1571C>A	ENSP00000419988.1:n.135-1571C>A
ENST00000478531.5:c.141C>A	ENSP00000420412.1:p.Cys47Ter
ENST00000489037.1:c.135-1571C>A	ENSP00000420781.1:n.135-1571C>A
ENST00000491747.6:c.141C>A	ENSP00000420705.2:p.Cys47Ter
ENST00000492859.5:c.*77C>A	ENSP00000420253.1:n.*77C>A
ENST00000493795.5:c.-1C>A	ENSP00000418775.1:n.-1C>A
ENST00000493919.5:c.-1C>A	ENSP00000418819.1:n.-1C>A
ENST00000494123.5:c.141C>A	ENSP00000419103.1:p.Cys47Ter
ENST00000497488.1:c.-218-11667C>A	ENSP00000418986.1:n.-218-11667C>A
ENST00000586385.5:c.4+18655C>A	ENSP00000465818.1:n.4+18655C>A
ENST00000591534.5:c.-44+18744C>A	ENSP00000467329.1:n.-44+18744C>A
ENST00000591849.5:c.-99+18744C>A	ENSP00000465347.1:n.-99+18744C>A
ENST00000634433.1:c.141C>A	ENSP00000489431.1:p.Cys47Ter
NM_007294.3:c.141C>A , LRG_292t1:c.141C>A	NP_009225.1:p.Cys47Ter
NM_007297.3:c.-1C>A	NP_009228.2:n.-1C>A
NM_007298.3:c.141C>A	NP_009229.2:p.Cys47Ter
NM_007299.3:c.141C>A	NP_009230.2:p.Cys47Ter
NM_007300.3:c.141C>A	NP_009231.2:p.Cys47Ter
NR_027676.1:n.302C>A
NM_007294.4:c.141C>A MANE Select	NP_009225.1:p.Cys47Ter
NM_007297.4:c.-1C>A	NP_009228.2:n.-1C>A
NM_007299.4:c.141C>A	NP_009230.2:p.Cys47Ter
NM_007300.4:c.141C>A	NP_009231.2:p.Cys47Ter
NR_027676.2:n.343C>A