Canonical Allele Identifier: CA500233373

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1101458
• ClinVar RCV Id: RCV002404993
• dbSNP Id: rs1597875228
• gnomAD v4: 17-43093944-A-C
• MyVariant Identifiers: chr17:g.41245961A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093944A>C , CM000679.2:g.43093944A>C	GRCh38
NC_000017.10:g.41245961A>C , CM000679.1:g.41245961A>C	GRCh37
NC_000017.9:g.38499487A>C	NCBI36
NG_005905.2:g.124040T>G , LRG_292:g.124040T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1651T>G
ENST00000461574.2:c.1587T>G	ENSP00000417241.2:p.Pro529=
ENST00000470026.6:c.1587T>G	ENSP00000419274.2:p.Pro529=
ENST00000473961.6:c.1461T>G	ENSP00000420201.2:p.Pro487=
ENST00000476777.6:c.1584T>G	ENSP00000417554.2:p.Pro528=
ENST00000477152.6:c.1509T>G	ENSP00000419988.2:p.Pro503=
ENST00000478531.6:c.784+800T>G	ENSP00000420412.2:n.784+800T>G
ENST00000489037.2:c.1509T>G	ENSP00000420781.2:p.Pro503=
ENST00000493919.6:c.646+800T>G	ENSP00000418819.2:n.646+800T>G
ENST00000494123.6:c.1587T>G	ENSP00000419103.2:p.Pro529=
ENST00000497488.2:c.699T>G	ENSP00000418986.2:p.Pro233=
ENST00000618469.2:c.1587T>G	ENSP00000478114.2:p.Pro529=
ENST00000634433.2:c.1464T>G	ENSP00000489431.2:p.Pro488=
ENST00000644379.2:c.1587T>G	ENSP00000496570.2:p.Pro529=
ENST00000644555.2:c.646+800T>G	ENSP00000494614.2:n.646+800T>G
ENST00000652672.2:c.1446T>G	ENSP00000498906.2:p.Pro482=
ENST00000484087.6:c.664+800T>G	ENSP00000419481.2:n.664+800T>G
ENST00000700182.1:c.706+800T>G	ENSP00000514849.1:n.706+800T>G
ENST00000357654.9:c.1587T>G MANE Select	ENSP00000350283.3:p.Pro529=
ENST00000471181.7:c.1587T>G	ENSP00000418960.2:p.Pro529=
ENST00000652672.1:c.1446T>G	ENSP00000498906.1:p.Pro482=
ENST00000352993.7:c.670+1902T>G	ENSP00000312236.5:n.670+1902T>G
ENST00000354071.7:c.1587T>G	ENSP00000326002.7:p.Pro529=
ENST00000357654.7:c.1587T>G	ENSP00000350283.3:p.Pro529=
ENST00000412061.3:c.938T>G
ENST00000461221.5:c.*1370T>G	ENSP00000418548.1:n.*1370T>G
ENST00000468300.5:c.787+800T>G	ENSP00000417148.1:n.787+800T>G
ENST00000470026.5:c.1587T>G	ENSP00000419274.1:p.Pro529=
ENST00000471181.6:c.1587T>G	ENSP00000418960.2:p.Pro529=
ENST00000477152.5:c.1509T>G	ENSP00000419988.1:p.Pro503=
ENST00000478531.5:c.784+800T>G	ENSP00000420412.1:n.784+800T>G
ENST00000484087.5:c.409+800T>G	ENSP00000419481.1:n.409+800T>G
ENST00000487825.5:c.412+800T>G	ENSP00000418212.1:n.412+800T>G
ENST00000491747.6:c.787+800T>G	ENSP00000420705.2:n.787+800T>G
ENST00000493795.5:c.1446T>G	ENSP00000418775.1:p.Pro482=
ENST00000493919.5:c.646+800T>G	ENSP00000418819.1:n.646+800T>G
ENST00000586385.5:c.5-29993T>G	ENSP00000465818.1:n.5-29993T>G
ENST00000591534.5:c.-43-19423T>G	ENSP00000467329.1:n.-43-19423T>G
ENST00000591849.5:c.-99+31327T>G	ENSP00000465347.1:n.-99+31327T>G
ENST00000634433.1:c.1464T>G	ENSP00000489431.1:p.Pro488=
NM_007294.3:c.1587T>G , LRG_292t1:c.1587T>G	NP_009225.1:p.Pro529=
NM_007297.3:c.1446T>G	NP_009228.2:p.Pro482=
NM_007298.3:c.787+800T>G	NP_009229.2:n.787+800T>G
NM_007299.3:c.787+800T>G	NP_009230.2:n.787+800T>G
NM_007300.3:c.1587T>G	NP_009231.2:p.Pro529=
NR_027676.1:n.1723T>G
NM_007294.4:c.1587T>G MANE Select	NP_009225.1:p.Pro529=
NM_007297.4:c.1446T>G	NP_009228.2:p.Pro482=
NM_007299.4:c.787+800T>G	NP_009230.2:n.787+800T>G
NM_007300.4:c.1587T>G	NP_009231.2:p.Pro529=
NR_027676.2:n.1764T>G