Canonical Allele Identifier: CA003760

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182121
• ClinVar RCV Id: RCV000159933 ; RCV000215880 ; RCV000549303 ; RCV001077746
• dbSNP Id: rs202168814
• gnomAD v2: 17-41276054-T-G
• MyVariant Identifiers: chr17:g.41276054T>G (hg19) ; chr17:g.43124037T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43124037T>G , CM000679.2:g.43124037T>G	GRCh38
NC_000017.10:g.41276054T>G , CM000679.1:g.41276054T>G	GRCh37
NC_000017.9:g.38529580T>G	NCBI36
NG_005905.2:g.93947A>C , LRG_292:g.93947A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.124A>C
ENST00000461574.2:c.60A>C	ENSP00000417241.2:p.Lys20Asn
ENST00000470026.6:c.60A>C	ENSP00000419274.2:p.Lys20Asn
ENST00000473961.6:c.60A>C	ENSP00000420201.2:p.Lys20Asn
ENST00000476777.6:c.60A>C	ENSP00000417554.2:p.Lys20Asn
ENST00000477152.6:c.60A>C	ENSP00000419988.2:p.Lys20Asn
ENST00000478531.6:c.60A>C	ENSP00000420412.2:p.Lys20Asn
ENST00000489037.2:c.60A>C	ENSP00000420781.2:p.Lys20Asn
ENST00000493919.6:c.-28A>C	ENSP00000418819.2:n.-28A>C
ENST00000494123.6:c.60A>C	ENSP00000419103.2:p.Lys20Asn
ENST00000497488.2:c.-219+1234A>C	ENSP00000418986.2:n.-219+1234A>C
ENST00000618469.2:c.60A>C	ENSP00000478114.2:p.Lys20Asn
ENST00000634433.2:c.60A>C	ENSP00000489431.2:p.Lys20Asn
ENST00000644379.2:c.60A>C	ENSP00000496570.2:p.Lys20Asn
ENST00000644555.2:c.-227A>C	ENSP00000494614.2:n.-227A>C
ENST00000652672.2:c.-201A>C	ENSP00000498906.2:n.-201A>C
ENST00000484087.6:c.60A>C	ENSP00000419481.2:p.Lys20Asn
ENST00000700182.1:c.60A>C	ENSP00000514849.1:p.Lys20Asn
ENST00000700183.1:c.60A>C	ENSP00000514850.1:p.Lys20Asn
ENST00000700184.1:n.303A>C
ENST00000700185.1:n.179A>C
ENST00000700186.1:n.179A>C
ENST00000357654.9:c.60A>C MANE Select	ENSP00000350283.3:p.Lys20Asn
ENST00000471181.7:c.60A>C	ENSP00000418960.2:p.Lys20Asn
ENST00000642945.1:c.60A>C	ENSP00000495897.1:p.Lys20Asn
ENST00000644555.1:c.-227A>C	ENSP00000494614.1:n.-227A>C
ENST00000652672.1:c.-201A>C	ENSP00000498906.1:n.-201A>C
ENST00000352993.7:c.60A>C	ENSP00000312236.5:p.Lys20Asn
ENST00000354071.7:c.60A>C	ENSP00000326002.7:p.Lys20Asn
ENST00000357654.7:c.60A>C	ENSP00000350283.3:p.Lys20Asn
ENST00000461221.5:c.60A>C	ENSP00000418548.1:p.Lys20Asn
ENST00000461798.5:c.60A>C	ENSP00000417988.1:p.Lys20Asn
ENST00000468300.5:c.60A>C	ENSP00000417148.1:p.Lys20Asn
ENST00000470026.5:c.60A>C	ENSP00000419274.1:p.Lys20Asn
ENST00000471181.6:c.60A>C	ENSP00000418960.2:p.Lys20Asn
ENST00000476777.5:c.60A>C	ENSP00000417554.1:p.Lys20Asn
ENST00000477152.5:c.60A>C	ENSP00000419988.1:p.Lys20Asn
ENST00000478531.5:c.60A>C	ENSP00000420412.1:p.Lys20Asn
ENST00000489037.1:c.60A>C	ENSP00000420781.1:p.Lys20Asn
ENST00000491747.6:c.60A>C	ENSP00000420705.2:p.Lys20Asn
ENST00000492859.5:c.60A>C	ENSP00000420253.1:p.Lys20Asn
ENST00000493795.5:c.-28A>C	ENSP00000418775.1:n.-28A>C
ENST00000493919.5:c.-28A>C	ENSP00000418819.1:n.-28A>C
ENST00000494123.5:c.60A>C	ENSP00000419103.1:p.Lys20Asn
ENST00000497488.1:c.-219+1234A>C	ENSP00000418986.1:n.-219+1234A>C
ENST00000586385.5:c.4+1145A>C	ENSP00000465818.1:n.4+1145A>C
ENST00000591534.5:c.-44+1234A>C	ENSP00000467329.1:n.-44+1234A>C
ENST00000591849.5:c.-99+1234A>C	ENSP00000465347.1:n.-99+1234A>C
ENST00000618469.1:c.60A>C	ENSP00000478114.1:p.Lys20Asn
ENST00000634433.1:c.60A>C	ENSP00000489431.1:p.Lys20Asn
NM_007294.3:c.60A>C , LRG_292t1:c.60A>C	NP_009225.1:p.Lys20Asn
NM_007297.3:c.-28A>C	NP_009228.2:n.-28A>C
NM_007298.3:c.60A>C	NP_009229.2:p.Lys20Asn
NM_007299.3:c.60A>C	NP_009230.2:p.Lys20Asn
NM_007300.3:c.60A>C	NP_009231.2:p.Lys20Asn
NR_027676.1:n.221A>C
NM_007294.4:c.60A>C MANE Select	NP_009225.1:p.Lys20Asn
NM_007297.4:c.-28A>C	NP_009228.2:n.-28A>C
NM_007299.4:c.60A>C	NP_009230.2:p.Lys20Asn
NM_007300.4:c.60A>C	NP_009231.2:p.Lys20Asn
NR_027676.2:n.262A>C