Canonical Allele Identifier: CA10590912

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867991
• ClinVar RCV Id: RCV001076794
• dbSNP Id: rs1597804254
• MyVariant Identifiers: chr17:g.41203092T>C (hg19) ; chr17:g.43051075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051075T>C , CM000679.2:g.43051075T>C	GRCh38
NC_000017.10:g.41203092T>C , CM000679.1:g.41203092T>C	GRCh37
NC_000017.9:g.38456618T>C	NCBI36
NG_005905.2:g.166909A>G , LRG_292:g.166909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5317A>G	ENSP00000417241.2:p.Asn1773Asp
ENST00000470026.6:c.5320A>G	ENSP00000419274.2:p.Asn1774Asp
ENST00000473961.6:c.5194A>G	ENSP00000420201.2:p.Asn1732Asp
ENST00000476777.6:c.5314A>G	ENSP00000417554.2:p.Asn1772Asp
ENST00000477152.6:c.5242A>G	ENSP00000419988.2:p.Asn1748Asp
ENST00000478531.6:c.2008A>G	ENSP00000420412.2:p.Asn670Asp
ENST00000489037.2:c.5242A>G	ENSP00000420781.2:p.Asn1748Asp
ENST00000493919.6:c.1870A>G	ENSP00000418819.2:p.Asn624Asp
ENST00000494123.6:c.5320A>G	ENSP00000419103.2:p.Asn1774Asp
ENST00000497488.2:c.4432A>G	ENSP00000418986.2:p.Asn1478Asp
ENST00000618469.2:c.5320A>G	ENSP00000478114.2:p.Asn1774Asp
ENST00000634433.2:c.5197A>G	ENSP00000489431.2:p.Asn1733Asp
ENST00000644379.2:c.5386A>G	ENSP00000496570.2:p.Asn1796Asp
ENST00000644555.2:c.1870A>G	ENSP00000494614.2:p.Asn624Asp
ENST00000652672.2:c.5179A>G	ENSP00000498906.2:p.Asn1727Asp
ENST00000484087.6:c.1882A>G	ENSP00000419481.2:p.Asn628Asp
ENST00000357654.9:c.5320A>G MANE Select	ENSP00000350283.3:p.Asn1774Asp
ENST00000471181.7:c.5383A>G	ENSP00000418960.2:p.Asn1795Asp
ENST00000644379.1:c.1707A>G
ENST00000352993.7:c.1894A>G	ENSP00000312236.5:p.Asn632Asp
ENST00000357654.7:c.5320A>G	ENSP00000350283.3:p.Asn1774Asp
ENST00000461221.5:c.*5103A>G	ENSP00000418548.1:n.*5103A>G
ENST00000468300.5:c.2008A>G	ENSP00000417148.1:p.Asn670Asp
ENST00000471181.6:c.5383A>G	ENSP00000418960.2:p.Asn1795Asp
ENST00000491747.6:c.2008A>G	ENSP00000420705.2:p.Asn670Asp
ENST00000493795.5:c.5179A>G	ENSP00000418775.1:p.Asn1727Asp
ENST00000586385.5:c.250A>G	ENSP00000465818.1:p.Asn84Asp
ENST00000591534.5:c.793A>G	ENSP00000467329.1:p.Asn265Asp
ENST00000591849.5:c.-98-885A>G	ENSP00000465347.1:n.-98-885A>G
NM_007294.3:c.5320A>G , LRG_292t1:c.5320A>G	NP_009225.1:p.Asn1774Asp
NM_007297.3:c.5179A>G	NP_009228.2:p.Asn1727Asp
NM_007298.3:c.2008A>G	NP_009229.2:p.Asn670Asp
NM_007299.3:c.2008A>G	NP_009230.2:p.Asn670Asp
NM_007300.3:c.5383A>G	NP_009231.2:p.Asn1795Asp
NR_027676.1:n.5456A>G
NM_007294.4:c.5320A>G MANE Select	NP_009225.1:p.Asn1774Asp
NM_007297.4:c.5179A>G	NP_009228.2:p.Asn1727Asp
NM_007299.4:c.2008A>G	NP_009230.2:p.Asn670Asp
NM_007300.4:c.5383A>G	NP_009231.2:p.Asn1795Asp
NR_027676.2:n.5497A>G