Canonical Allele Identifier: CA10590913

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825649
• ClinVar RCV Id: RCV001023924 ; RCV001076793 ; RCV002550894
• dbSNP Id: rs1597804254
• MyVariant Identifiers: chr17:g.41203092T>G (hg19) ; chr17:g.43051075T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5317A>C	ENSP00000417241.2:p.Asn1773His
ENST00000470026.6:c.5320A>C	ENSP00000419274.2:p.Asn1774His
ENST00000473961.6:c.5194A>C	ENSP00000420201.2:p.Asn1732His
ENST00000476777.6:c.5314A>C	ENSP00000417554.2:p.Asn1772His
ENST00000477152.6:c.5242A>C	ENSP00000419988.2:p.Asn1748His
ENST00000478531.6:c.2008A>C	ENSP00000420412.2:p.Asn670His
ENST00000489037.2:c.5242A>C	ENSP00000420781.2:p.Asn1748His
ENST00000493919.6:c.1870A>C	ENSP00000418819.2:p.Asn624His
ENST00000494123.6:c.5320A>C	ENSP00000419103.2:p.Asn1774His
ENST00000497488.2:c.4432A>C	ENSP00000418986.2:p.Asn1478His
ENST00000618469.2:c.5320A>C	ENSP00000478114.2:p.Asn1774His
ENST00000634433.2:c.5197A>C	ENSP00000489431.2:p.Asn1733His
ENST00000644379.2:c.5386A>C	ENSP00000496570.2:p.Asn1796His
ENST00000644555.2:c.1870A>C	ENSP00000494614.2:p.Asn624His
ENST00000652672.2:c.5179A>C	ENSP00000498906.2:p.Asn1727His
ENST00000484087.6:c.1882A>C	ENSP00000419481.2:p.Asn628His
ENST00000357654.9:c.5320A>C MANE Select	ENSP00000350283.3:p.Asn1774His
ENST00000471181.7:c.5383A>C	ENSP00000418960.2:p.Asn1795His
ENST00000644379.1:c.1707A>C
ENST00000352993.7:c.1894A>C	ENSP00000312236.5:p.Asn632His
ENST00000357654.7:c.5320A>C	ENSP00000350283.3:p.Asn1774His
ENST00000461221.5:c.*5103A>C	ENSP00000418548.1:n.*5103A>C
ENST00000468300.5:c.2008A>C	ENSP00000417148.1:p.Asn670His
ENST00000471181.6:c.5383A>C	ENSP00000418960.2:p.Asn1795His
ENST00000491747.6:c.2008A>C	ENSP00000420705.2:p.Asn670His
ENST00000493795.5:c.5179A>C	ENSP00000418775.1:p.Asn1727His
ENST00000586385.5:c.250A>C	ENSP00000465818.1:p.Asn84His
ENST00000591534.5:c.793A>C	ENSP00000467329.1:p.Asn265His
ENST00000591849.5:c.-98-885A>C	ENSP00000465347.1:n.-98-885A>C
NM_007294.3:c.5320A>C , LRG_292t1:c.5320A>C	NP_009225.1:p.Asn1774His
NM_007297.3:c.5179A>C	NP_009228.2:p.Asn1727His
NM_007298.3:c.2008A>C	NP_009229.2:p.Asn670His
NM_007299.3:c.2008A>C	NP_009230.2:p.Asn670His
NM_007300.3:c.5383A>C	NP_009231.2:p.Asn1795His
NR_027676.1:n.5456A>C
NM_007294.4:c.5320A>C MANE Select	NP_009225.1:p.Asn1774His
NM_007297.4:c.5179A>C	NP_009228.2:p.Asn1727His
NM_007299.4:c.2008A>C	NP_009230.2:p.Asn670His
NM_007300.4:c.5383A>C	NP_009231.2:p.Asn1795His
NR_027676.2:n.5497A>C