Canonical Allele Identifier: CA10598390

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 619785
• ClinVar RCV Id: RCV000759498 ; RCV001322526 ; RCV001824875 ; RCV003158102
• dbSNP Id: rs587781613
• gnomAD v4: 17-43093718-C-G
• MyVariant Identifiers: chr17:g.41245735C>G (hg19) ; chr17:g.43093718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093718C>G , CM000679.2:g.43093718C>G	GRCh38
NC_000017.10:g.41245735C>G , CM000679.1:g.41245735C>G	GRCh37
NC_000017.9:g.38499261C>G	NCBI36
NG_005905.2:g.124266G>C , LRG_292:g.124266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1877G>C
ENST00000461574.2:c.1813G>C	ENSP00000417241.2:p.Ala605Pro
ENST00000470026.6:c.1813G>C	ENSP00000419274.2:p.Ala605Pro
ENST00000473961.6:c.1687G>C	ENSP00000420201.2:p.Ala563Pro
ENST00000476777.6:c.1810G>C	ENSP00000417554.2:p.Ala604Pro
ENST00000477152.6:c.1735G>C	ENSP00000419988.2:p.Ala579Pro
ENST00000478531.6:c.784+1026G>C	ENSP00000420412.2:n.784+1026G>C
ENST00000489037.2:c.1735G>C	ENSP00000420781.2:p.Ala579Pro
ENST00000493919.6:c.646+1026G>C	ENSP00000418819.2:n.646+1026G>C
ENST00000494123.6:c.1813G>C	ENSP00000419103.2:p.Ala605Pro
ENST00000497488.2:c.925G>C	ENSP00000418986.2:p.Ala309Pro
ENST00000618469.2:c.1813G>C	ENSP00000478114.2:p.Ala605Pro
ENST00000634433.2:c.1690G>C	ENSP00000489431.2:p.Ala564Pro
ENST00000644379.2:c.1813G>C	ENSP00000496570.2:p.Ala605Pro
ENST00000644555.2:c.646+1026G>C	ENSP00000494614.2:n.646+1026G>C
ENST00000652672.2:c.1672G>C	ENSP00000498906.2:p.Ala558Pro
ENST00000484087.6:c.664+1026G>C	ENSP00000419481.2:n.664+1026G>C
ENST00000700182.1:c.706+1026G>C	ENSP00000514849.1:n.706+1026G>C
ENST00000357654.9:c.1813G>C MANE Select	ENSP00000350283.3:p.Ala605Pro
ENST00000471181.7:c.1813G>C	ENSP00000418960.2:p.Ala605Pro
ENST00000652672.1:c.1672G>C	ENSP00000498906.1:p.Ala558Pro
ENST00000352993.7:c.670+2128G>C	ENSP00000312236.5:n.670+2128G>C
ENST00000354071.7:c.1813G>C	ENSP00000326002.7:p.Ala605Pro
ENST00000357654.7:c.1813G>C	ENSP00000350283.3:p.Ala605Pro
ENST00000412061.3:c.1164G>C
ENST00000461221.5:c.*1596G>C	ENSP00000418548.1:n.*1596G>C
ENST00000468300.5:c.787+1026G>C	ENSP00000417148.1:n.787+1026G>C
ENST00000470026.5:c.1813G>C	ENSP00000419274.1:p.Ala605Pro
ENST00000471181.6:c.1813G>C	ENSP00000418960.2:p.Ala605Pro
ENST00000477152.5:c.1735G>C	ENSP00000419988.1:p.Ala579Pro
ENST00000478531.5:c.784+1026G>C	ENSP00000420412.1:n.784+1026G>C
ENST00000484087.5:c.409+1026G>C	ENSP00000419481.1:n.409+1026G>C
ENST00000487825.5:c.412+1026G>C	ENSP00000418212.1:n.412+1026G>C
ENST00000491747.6:c.787+1026G>C	ENSP00000420705.2:n.787+1026G>C
ENST00000493795.5:c.1672G>C	ENSP00000418775.1:p.Ala558Pro
ENST00000493919.5:c.646+1026G>C	ENSP00000418819.1:n.646+1026G>C
ENST00000586385.5:c.5-29767G>C	ENSP00000465818.1:n.5-29767G>C
ENST00000591534.5:c.-43-19197G>C	ENSP00000467329.1:n.-43-19197G>C
ENST00000591849.5:c.-99+31553G>C	ENSP00000465347.1:n.-99+31553G>C
ENST00000634433.1:c.1690G>C	ENSP00000489431.1:p.Ala564Pro
NM_007294.3:c.1813G>C , LRG_292t1:c.1813G>C	NP_009225.1:p.Ala605Pro
NM_007297.3:c.1672G>C	NP_009228.2:p.Ala558Pro
NM_007298.3:c.787+1026G>C	NP_009229.2:n.787+1026G>C
NM_007299.3:c.787+1026G>C	NP_009230.2:n.787+1026G>C
NM_007300.3:c.1813G>C	NP_009231.2:p.Ala605Pro
NR_027676.1:n.1949G>C
NM_007294.4:c.1813G>C MANE Select	NP_009225.1:p.Ala605Pro
NM_007297.4:c.1672G>C	NP_009228.2:p.Ala558Pro
NM_007299.4:c.787+1026G>C	NP_009230.2:n.787+1026G>C
NM_007300.4:c.1813G>C	NP_009231.2:p.Ala605Pro
NR_027676.2:n.1990G>C