Canonical Allele Identifier: CA10592743

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 420981
• ClinVar RCV Id: RCV000478487 ; RCV000637685 ; RCV001022417 ; RCV002248702
• dbSNP Id: rs1064794830
• gnomAD v4: 17-43076576-T-A
• MyVariant Identifiers: chr17:g.41228593T>A (hg19) ; chr17:g.43076576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076576T>A , CM000679.2:g.43076576T>A	GRCh38
NC_000017.10:g.41228593T>A , CM000679.1:g.41228593T>A	GRCh37
NC_000017.9:g.38482119T>A	NCBI36
NG_005905.2:g.141408A>T , LRG_292:g.141408A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4393A>T	ENSP00000417241.2:p.Ser1465Cys
ENST00000470026.6:c.4396A>T	ENSP00000419274.2:p.Ser1466Cys
ENST00000473961.6:c.4270A>T	ENSP00000420201.2:p.Ser1424Cys
ENST00000476777.6:c.4390A>T	ENSP00000417554.2:p.Ser1464Cys
ENST00000477152.6:c.4318A>T	ENSP00000419988.2:p.Ser1440Cys
ENST00000478531.6:c.1084A>T	ENSP00000420412.2:p.Ser362Cys
ENST00000489037.2:c.4318A>T	ENSP00000420781.2:p.Ser1440Cys
ENST00000493919.6:c.946A>T	ENSP00000418819.2:p.Ser316Cys
ENST00000494123.6:c.4396A>T	ENSP00000419103.2:p.Ser1466Cys
ENST00000497488.2:c.3508A>T	ENSP00000418986.2:p.Ser1170Cys
ENST00000618469.2:c.4396A>T	ENSP00000478114.2:p.Ser1466Cys
ENST00000634433.2:c.4273A>T	ENSP00000489431.2:p.Ser1425Cys
ENST00000644379.2:c.4462A>T	ENSP00000496570.2:p.Ser1488Cys
ENST00000644555.2:c.946A>T	ENSP00000494614.2:p.Ser316Cys
ENST00000652672.2:c.4255A>T	ENSP00000498906.2:p.Ser1419Cys
ENST00000484087.6:c.958A>T	ENSP00000419481.2:p.Ser320Cys
ENST00000700182.1:c.1003A>T	ENSP00000514849.1:p.Ser335Cys
ENST00000357654.9:c.4396A>T MANE Select	ENSP00000350283.3:p.Ser1466Cys
ENST00000471181.7:c.4459A>T	ENSP00000418960.2:p.Ser1487Cys
ENST00000644379.1:c.783A>T
ENST00000352993.7:c.970A>T	ENSP00000312236.5:p.Ser324Cys
ENST00000357654.7:c.4396A>T	ENSP00000350283.3:p.Ser1466Cys
ENST00000461221.5:c.*4179A>T	ENSP00000418548.1:n.*4179A>T
ENST00000461574.1:c.687A>T
ENST00000468300.5:c.1084A>T	ENSP00000417148.1:p.Ser362Cys
ENST00000471181.6:c.4459A>T	ENSP00000418960.2:p.Ser1487Cys
ENST00000478531.5:c.1084A>T	ENSP00000420412.1:p.Ser362Cys
ENST00000484087.5:c.709A>T	ENSP00000419481.1:p.Ser237Cys
ENST00000487825.5:c.712A>T	ENSP00000418212.1:p.Ser238Cys
ENST00000491747.6:c.1084A>T	ENSP00000420705.2:p.Ser362Cys
ENST00000493795.5:c.4255A>T	ENSP00000418775.1:p.Ser1419Cys
ENST00000493919.5:c.946A>T	ENSP00000418819.1:p.Ser316Cys
ENST00000586385.5:c.5-12625A>T	ENSP00000465818.1:n.5-12625A>T
ENST00000591534.5:c.-43-2055A>T	ENSP00000467329.1:n.-43-2055A>T
ENST00000591849.5:c.-98-26386A>T	ENSP00000465347.1:n.-98-26386A>T
ENST00000621897.1:n.287A>T
NM_007294.3:c.4396A>T , LRG_292t1:c.4396A>T	NP_009225.1:p.Ser1466Cys
NM_007297.3:c.4255A>T	NP_009228.2:p.Ser1419Cys
NM_007298.3:c.1084A>T	NP_009229.2:p.Ser362Cys
NM_007299.3:c.1084A>T	NP_009230.2:p.Ser362Cys
NM_007300.3:c.4459A>T	NP_009231.2:p.Ser1487Cys
NR_027676.1:n.4532A>T
NM_007294.4:c.4396A>T MANE Select	NP_009225.1:p.Ser1466Cys
NM_007297.4:c.4255A>T	NP_009228.2:p.Ser1419Cys
NM_007299.4:c.1084A>T	NP_009230.2:p.Ser362Cys
NM_007300.4:c.4459A>T	NP_009231.2:p.Ser1487Cys
NR_027676.2:n.4573A>T