Canonical Allele Identifier: CA10592789

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479194
• ClinVar RCV Id: RCV000563972
• dbSNP Id: rs1555582697
• gnomAD v4: 17-43076596-T-C
• MyVariant Identifiers: chr17:g.41228613T>C (hg19) ; chr17:g.43076596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076596T>C , CM000679.2:g.43076596T>C	GRCh38
NC_000017.10:g.41228613T>C , CM000679.1:g.41228613T>C	GRCh37
NC_000017.9:g.38482139T>C	NCBI36
NG_005905.2:g.141388A>G , LRG_292:g.141388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4373A>G	ENSP00000417241.2:p.Lys1458Arg
ENST00000470026.6:c.4376A>G	ENSP00000419274.2:p.Lys1459Arg
ENST00000473961.6:c.4250A>G	ENSP00000420201.2:p.Lys1417Arg
ENST00000476777.6:c.4370A>G	ENSP00000417554.2:p.Lys1457Arg
ENST00000477152.6:c.4298A>G	ENSP00000419988.2:p.Lys1433Arg
ENST00000478531.6:c.1064A>G	ENSP00000420412.2:p.Lys355Arg
ENST00000489037.2:c.4298A>G	ENSP00000420781.2:p.Lys1433Arg
ENST00000493919.6:c.926A>G	ENSP00000418819.2:p.Lys309Arg
ENST00000494123.6:c.4376A>G	ENSP00000419103.2:p.Lys1459Arg
ENST00000497488.2:c.3488A>G	ENSP00000418986.2:p.Lys1163Arg
ENST00000618469.2:c.4376A>G	ENSP00000478114.2:p.Lys1459Arg
ENST00000634433.2:c.4253A>G	ENSP00000489431.2:p.Lys1418Arg
ENST00000644379.2:c.4442A>G	ENSP00000496570.2:p.Lys1481Arg
ENST00000644555.2:c.926A>G	ENSP00000494614.2:p.Lys309Arg
ENST00000652672.2:c.4235A>G	ENSP00000498906.2:p.Lys1412Arg
ENST00000484087.6:c.938A>G	ENSP00000419481.2:p.Lys313Arg
ENST00000700182.1:c.983A>G	ENSP00000514849.1:p.Lys328Arg
ENST00000357654.9:c.4376A>G MANE Select	ENSP00000350283.3:p.Lys1459Arg
ENST00000471181.7:c.4439A>G	ENSP00000418960.2:p.Lys1480Arg
ENST00000644379.1:c.763A>G
ENST00000352993.7:c.950A>G	ENSP00000312236.5:p.Lys317Arg
ENST00000357654.7:c.4376A>G	ENSP00000350283.3:p.Lys1459Arg
ENST00000461221.5:c.*4159A>G	ENSP00000418548.1:n.*4159A>G
ENST00000461574.1:c.667A>G
ENST00000468300.5:c.1064A>G	ENSP00000417148.1:p.Lys355Arg
ENST00000471181.6:c.4439A>G	ENSP00000418960.2:p.Lys1480Arg
ENST00000478531.5:c.1064A>G	ENSP00000420412.1:p.Lys355Arg
ENST00000484087.5:c.689A>G	ENSP00000419481.1:p.Lys230Arg
ENST00000487825.5:c.692A>G	ENSP00000418212.1:p.Lys231Arg
ENST00000491747.6:c.1064A>G	ENSP00000420705.2:p.Lys355Arg
ENST00000493795.5:c.4235A>G	ENSP00000418775.1:p.Lys1412Arg
ENST00000493919.5:c.926A>G	ENSP00000418819.1:p.Lys309Arg
ENST00000586385.5:c.5-12645A>G	ENSP00000465818.1:n.5-12645A>G
ENST00000591534.5:c.-43-2075A>G	ENSP00000467329.1:n.-43-2075A>G
ENST00000591849.5:c.-98-26406A>G	ENSP00000465347.1:n.-98-26406A>G
ENST00000621897.1:n.267A>G
NM_007294.3:c.4376A>G , LRG_292t1:c.4376A>G	NP_009225.1:p.Lys1459Arg
NM_007297.3:c.4235A>G	NP_009228.2:p.Lys1412Arg
NM_007298.3:c.1064A>G	NP_009229.2:p.Lys355Arg
NM_007299.3:c.1064A>G	NP_009230.2:p.Lys355Arg
NM_007300.3:c.4439A>G	NP_009231.2:p.Lys1480Arg
NR_027676.1:n.4512A>G
NM_007294.4:c.4376A>G MANE Select	NP_009225.1:p.Lys1459Arg
NM_007297.4:c.4235A>G	NP_009228.2:p.Lys1412Arg
NM_007299.4:c.1064A>G	NP_009230.2:p.Lys355Arg
NM_007300.4:c.4439A>G	NP_009231.2:p.Lys1480Arg
NR_027676.2:n.4553A>G