Canonical Allele Identifier: CA10590172

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1714923
• ClinVar RCV Id: RCV002299254
• MyVariant Identifiers: chr17:g.41197709G>T (hg19) ; chr17:g.43045692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045692G>T , CM000679.2:g.43045692G>T	GRCh38
NC_000017.10:g.41197709G>T , CM000679.1:g.41197709G>T	GRCh37
NC_000017.9:g.38451235G>T	NCBI36
NG_005905.2:g.172292C>A , LRG_292:g.172292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5575C>A	ENSP00000417241.2:p.His1859Asn
ENST00000470026.6:c.5578C>A	ENSP00000419274.2:p.His1860Asn
ENST00000473961.6:c.5452C>A	ENSP00000420201.2:p.His1818Asn
ENST00000476777.6:c.5572C>A	ENSP00000417554.2:p.His1858Asn
ENST00000477152.6:c.5500C>A	ENSP00000419988.2:p.His1834Asn
ENST00000478531.6:c.2266C>A	ENSP00000420412.2:p.His756Asn
ENST00000489037.2:c.5500C>A	ENSP00000420781.2:p.His1834Asn
ENST00000493919.6:c.2128C>A	ENSP00000418819.2:p.His710Asn
ENST00000494123.6:c.5578C>A	ENSP00000419103.2:p.His1860Asn
ENST00000497488.2:c.4690C>A	ENSP00000418986.2:p.His1564Asn
ENST00000618469.2:c.5578C>A	ENSP00000478114.2:p.His1860Asn
ENST00000634433.2:c.5455C>A	ENSP00000489431.2:p.His1819Asn
ENST00000644379.2:c.5644C>A	ENSP00000496570.2:p.His1882Asn
ENST00000644555.2:c.2128C>A	ENSP00000494614.2:p.His710Asn
ENST00000652672.2:c.5437C>A	ENSP00000498906.2:p.His1813Asn
ENST00000484087.6:c.2140C>A	ENSP00000419481.2:p.His714Asn
ENST00000700081.1:n.1461C>A
ENST00000700082.1:n.942C>A
ENST00000357654.9:c.5578C>A MANE Select	ENSP00000350283.3:p.His1860Asn
ENST00000471181.7:c.5641C>A	ENSP00000418960.2:p.His1881Asn
ENST00000644379.1:c.1965C>A
ENST00000352993.7:c.2152C>A	ENSP00000312236.5:p.His718Asn
ENST00000357654.7:c.5578C>A	ENSP00000350283.3:p.His1860Asn
ENST00000461221.5:c.*5361C>A	ENSP00000418548.1:n.*5361C>A
ENST00000468300.5:c.*92C>A	ENSP00000417148.1:n.*92C>A
ENST00000471181.6:c.5641C>A	ENSP00000418960.2:p.His1881Asn
ENST00000491747.6:c.2266C>A	ENSP00000420705.2:p.His756Asn
ENST00000493795.5:c.5437C>A	ENSP00000418775.1:p.His1813Asn
ENST00000586385.5:c.508C>A	ENSP00000465818.1:p.His170Asn
ENST00000591534.5:c.1051C>A	ENSP00000467329.1:p.His351Asn
ENST00000591849.5:c.277C>A	ENSP00000465347.1:p.His93Asn
NM_007294.3:c.5578C>A , LRG_292t1:c.5578C>A	NP_009225.1:p.His1860Asn
NM_007297.3:c.5437C>A	NP_009228.2:p.His1813Asn
NM_007298.3:c.2266C>A	NP_009229.2:p.His756Asn
NM_007299.3:c.*92C>A	NP_009230.2:n.*92C>A
NM_007300.3:c.5641C>A	NP_009231.2:p.His1881Asn
NR_027676.1:n.5714C>A
NM_007294.4:c.5578C>A MANE Select	NP_009225.1:p.His1860Asn
NM_007297.4:c.5437C>A	NP_009228.2:p.His1813Asn
NM_007299.4:c.*92C>A	NP_009230.2:n.*92C>A
NM_007300.4:c.5641C>A	NP_009231.2:p.His1881Asn
NR_027676.2:n.5755C>A