Canonical Allele Identifier: CA10583568

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 240787
• ClinVar RCV Id: RCV000228849 ; RCV002321882
• dbSNP Id: rs878854943
• gnomAD v4: 17-43092405-G-C
• MyVariant Identifiers: chr17:g.41244422G>C (hg19) ; chr17:g.43092405G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092405G>C , CM000679.2:g.43092405G>C	GRCh38
NC_000017.10:g.41244422G>C , CM000679.1:g.41244422G>C	GRCh37
NC_000017.9:g.38497948G>C	NCBI36
NG_005905.2:g.125579C>G , LRG_292:g.125579C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3190C>G
ENST00000461574.2:c.3126C>G	ENSP00000417241.2:p.Ser1042Arg
ENST00000470026.6:c.3126C>G	ENSP00000419274.2:p.Ser1042Arg
ENST00000473961.6:c.3000C>G	ENSP00000420201.2:p.Ser1000Arg
ENST00000476777.6:c.3123C>G	ENSP00000417554.2:p.Ser1041Arg
ENST00000477152.6:c.3048C>G	ENSP00000419988.2:p.Ser1016Arg
ENST00000478531.6:c.785-1373C>G	ENSP00000420412.2:n.785-1373C>G
ENST00000489037.2:c.3048C>G	ENSP00000420781.2:p.Ser1016Arg
ENST00000493919.6:c.647-1373C>G	ENSP00000418819.2:n.647-1373C>G
ENST00000494123.6:c.3126C>G	ENSP00000419103.2:p.Ser1042Arg
ENST00000497488.2:c.2238C>G	ENSP00000418986.2:p.Ser746Arg
ENST00000618469.2:c.3126C>G	ENSP00000478114.2:p.Ser1042Arg
ENST00000634433.2:c.3003C>G	ENSP00000489431.2:p.Ser1001Arg
ENST00000644379.2:c.3126C>G	ENSP00000496570.2:p.Ser1042Arg
ENST00000644555.2:c.647-1373C>G	ENSP00000494614.2:n.647-1373C>G
ENST00000652672.2:c.2985C>G	ENSP00000498906.2:p.Ser995Arg
ENST00000484087.6:c.665-1373C>G	ENSP00000419481.2:n.665-1373C>G
ENST00000700182.1:c.707-1373C>G	ENSP00000514849.1:n.707-1373C>G
ENST00000357654.9:c.3126C>G MANE Select	ENSP00000350283.3:p.Ser1042Arg
ENST00000471181.7:c.3126C>G	ENSP00000418960.2:p.Ser1042Arg
ENST00000352993.7:c.671-1373C>G	ENSP00000312236.5:n.671-1373C>G
ENST00000354071.7:c.3126C>G	ENSP00000326002.7:p.Ser1042Arg
ENST00000357654.7:c.3126C>G	ENSP00000350283.3:p.Ser1042Arg
ENST00000461221.5:c.*2909C>G	ENSP00000418548.1:n.*2909C>G
ENST00000468300.5:c.788-1373C>G	ENSP00000417148.1:n.788-1373C>G
ENST00000471181.6:c.3126C>G	ENSP00000418960.2:p.Ser1042Arg
ENST00000478531.5:c.785-1373C>G	ENSP00000420412.1:n.785-1373C>G
ENST00000484087.5:c.410-1373C>G	ENSP00000419481.1:n.410-1373C>G
ENST00000487825.5:c.413-1373C>G	ENSP00000418212.1:n.413-1373C>G
ENST00000491747.6:c.788-1373C>G	ENSP00000420705.2:n.788-1373C>G
ENST00000493795.5:c.2985C>G	ENSP00000418775.1:p.Ser995Arg
ENST00000493919.5:c.647-1373C>G	ENSP00000418819.1:n.647-1373C>G
ENST00000586385.5:c.5-28454C>G	ENSP00000465818.1:n.5-28454C>G
ENST00000591534.5:c.-43-17884C>G	ENSP00000467329.1:n.-43-17884C>G
ENST00000591849.5:c.-99+32866C>G	ENSP00000465347.1:n.-99+32866C>G
NM_007294.3:c.3126C>G , LRG_292t1:c.3126C>G	NP_009225.1:p.Ser1042Arg
NM_007297.3:c.2985C>G	NP_009228.2:p.Ser995Arg
NM_007298.3:c.788-1373C>G	NP_009229.2:n.788-1373C>G
NM_007299.3:c.788-1373C>G	NP_009230.2:n.788-1373C>G
NM_007300.3:c.3126C>G	NP_009231.2:p.Ser1042Arg
NR_027676.1:n.3262C>G
NM_007294.4:c.3126C>G MANE Select	NP_009225.1:p.Ser1042Arg
NM_007297.4:c.2985C>G	NP_009228.2:p.Ser995Arg
NM_007299.4:c.788-1373C>G	NP_009230.2:n.788-1373C>G
NM_007300.4:c.3126C>G	NP_009231.2:p.Ser1042Arg
NR_027676.2:n.3303C>G