Canonical Allele Identifier: CA003188

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37627
• ClinVar RCV Id: RCV000031208 ; RCV000048760 ; RCV000485950 ; RCV000574915 ; RCV002250478
• dbSNP Id: rs80357034
• MyVariant Identifiers: chr17:g.41219627G>T (hg19) ; chr17:g.43067610G>T (hg38)
• PubMed: PMID:11573086 ; PMID:20516115 ; PMID:22277901 ; PMID:25724305

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067610G>T , CM000679.2:g.43067610G>T	GRCh38
NC_000017.10:g.41219627G>T , CM000679.1:g.41219627G>T	GRCh37
NC_000017.9:g.38473153G>T	NCBI36
NG_005905.2:g.150374C>A , LRG_292:g.150374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5069C>A	ENSP00000417241.2:p.Thr1690Lys
ENST00000470026.6:c.5072C>A	ENSP00000419274.2:p.Thr1691Lys
ENST00000473961.6:c.4946C>A	ENSP00000420201.2:p.Thr1649Lys
ENST00000476777.6:c.5066C>A	ENSP00000417554.2:p.Thr1689Lys
ENST00000477152.6:c.4994C>A	ENSP00000419988.2:p.Thr1665Lys
ENST00000478531.6:c.1760C>A	ENSP00000420412.2:p.Thr587Lys
ENST00000489037.2:c.4994C>A	ENSP00000420781.2:p.Thr1665Lys
ENST00000493919.6:c.1622C>A	ENSP00000418819.2:p.Thr541Lys
ENST00000494123.6:c.5072C>A	ENSP00000419103.2:p.Thr1691Lys
ENST00000497488.2:c.4184C>A	ENSP00000418986.2:p.Thr1395Lys
ENST00000618469.2:c.5072C>A	ENSP00000478114.2:p.Thr1691Lys
ENST00000634433.2:c.4949C>A	ENSP00000489431.2:p.Thr1650Lys
ENST00000644379.2:c.5138C>A	ENSP00000496570.2:p.Thr1713Lys
ENST00000644555.2:c.1622C>A	ENSP00000494614.2:p.Thr541Lys
ENST00000652672.2:c.4931C>A	ENSP00000498906.2:p.Thr1644Lys
ENST00000484087.6:c.1634C>A	ENSP00000419481.2:p.Thr545Lys
ENST00000357654.9:c.5072C>A MANE Select	ENSP00000350283.3:p.Thr1691Lys
ENST00000471181.7:c.5135C>A	ENSP00000418960.2:p.Thr1712Lys
ENST00000644379.1:c.1459C>A
ENST00000352993.7:c.1646C>A	ENSP00000312236.5:p.Thr549Lys
ENST00000357654.7:c.5072C>A	ENSP00000350283.3:p.Thr1691Lys
ENST00000461221.5:c.*4855C>A	ENSP00000418548.1:n.*4855C>A
ENST00000468300.5:c.1760C>A	ENSP00000417148.1:p.Thr587Lys
ENST00000471181.6:c.5135C>A	ENSP00000418960.2:p.Thr1712Lys
ENST00000472490.1:n.225C>A
ENST00000478531.5:c.1760C>A	ENSP00000420412.1:p.Thr587Lys
ENST00000484087.5:c.1385C>A	ENSP00000419481.1:p.Thr462Lys
ENST00000491747.6:c.1760C>A	ENSP00000420705.2:p.Thr587Lys
ENST00000493795.5:c.4931C>A	ENSP00000418775.1:p.Thr1644Lys
ENST00000493919.5:c.1622C>A	ENSP00000418819.1:p.Thr541Lys
ENST00000586385.5:c.5-3659C>A	ENSP00000465818.1:n.5-3659C>A
ENST00000591534.5:c.545C>A	ENSP00000467329.1:p.Thr182Lys
ENST00000591849.5:c.-98-17420C>A	ENSP00000465347.1:n.-98-17420C>A
NM_007294.3:c.5072C>A , LRG_292t1:c.5072C>A	NP_009225.1:p.Thr1691Lys
NM_007297.3:c.4931C>A	NP_009228.2:p.Thr1644Lys
NM_007298.3:c.1760C>A	NP_009229.2:p.Thr587Lys
NM_007299.3:c.1760C>A	NP_009230.2:p.Thr587Lys
NM_007300.3:c.5135C>A	NP_009231.2:p.Thr1712Lys
NR_027676.1:n.5208C>A
NM_007294.4:c.5072C>A MANE Select	NP_009225.1:p.Thr1691Lys
NM_007297.4:c.4931C>A	NP_009228.2:p.Thr1644Lys
NM_007299.4:c.1760C>A	NP_009230.2:p.Thr587Lys
NM_007300.4:c.5135C>A	NP_009231.2:p.Thr1712Lys
NR_027676.2:n.5249C>A