Canonical Allele Identifier: CA003189

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55373
• ClinVar RCV Id: RCV000577017 ; RCV001077998 ; RCV002257395
• dbSNP Id: rs80357034
• MyVariant Identifiers: chr17:g.41219627G>C (hg19) ; chr17:g.43067610G>C (hg38)
• PubMed: PMID:22144684

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5069C>G	ENSP00000417241.2:p.Thr1690Arg
ENST00000470026.6:c.5072C>G	ENSP00000419274.2:p.Thr1691Arg
ENST00000473961.6:c.4946C>G	ENSP00000420201.2:p.Thr1649Arg
ENST00000476777.6:c.5066C>G	ENSP00000417554.2:p.Thr1689Arg
ENST00000477152.6:c.4994C>G	ENSP00000419988.2:p.Thr1665Arg
ENST00000478531.6:c.1760C>G	ENSP00000420412.2:p.Thr587Arg
ENST00000489037.2:c.4994C>G	ENSP00000420781.2:p.Thr1665Arg
ENST00000493919.6:c.1622C>G	ENSP00000418819.2:p.Thr541Arg
ENST00000494123.6:c.5072C>G	ENSP00000419103.2:p.Thr1691Arg
ENST00000497488.2:c.4184C>G	ENSP00000418986.2:p.Thr1395Arg
ENST00000618469.2:c.5072C>G	ENSP00000478114.2:p.Thr1691Arg
ENST00000634433.2:c.4949C>G	ENSP00000489431.2:p.Thr1650Arg
ENST00000644379.2:c.5138C>G	ENSP00000496570.2:p.Thr1713Arg
ENST00000644555.2:c.1622C>G	ENSP00000494614.2:p.Thr541Arg
ENST00000652672.2:c.4931C>G	ENSP00000498906.2:p.Thr1644Arg
ENST00000484087.6:c.1634C>G	ENSP00000419481.2:p.Thr545Arg
ENST00000357654.9:c.5072C>G MANE Select	ENSP00000350283.3:p.Thr1691Arg
ENST00000471181.7:c.5135C>G	ENSP00000418960.2:p.Thr1712Arg
ENST00000644379.1:c.1459C>G
ENST00000352993.7:c.1646C>G	ENSP00000312236.5:p.Thr549Arg
ENST00000357654.7:c.5072C>G	ENSP00000350283.3:p.Thr1691Arg
ENST00000461221.5:c.*4855C>G	ENSP00000418548.1:n.*4855C>G
ENST00000468300.5:c.1760C>G	ENSP00000417148.1:p.Thr587Arg
ENST00000471181.6:c.5135C>G	ENSP00000418960.2:p.Thr1712Arg
ENST00000472490.1:n.225C>G
ENST00000478531.5:c.1760C>G	ENSP00000420412.1:p.Thr587Arg
ENST00000484087.5:c.1385C>G	ENSP00000419481.1:p.Thr462Arg
ENST00000491747.6:c.1760C>G	ENSP00000420705.2:p.Thr587Arg
ENST00000493795.5:c.4931C>G	ENSP00000418775.1:p.Thr1644Arg
ENST00000493919.5:c.1622C>G	ENSP00000418819.1:p.Thr541Arg
ENST00000586385.5:c.5-3659C>G	ENSP00000465818.1:n.5-3659C>G
ENST00000591534.5:c.545C>G	ENSP00000467329.1:p.Thr182Arg
ENST00000591849.5:c.-98-17420C>G	ENSP00000465347.1:n.-98-17420C>G
NM_007294.3:c.5072C>G , LRG_292t1:c.5072C>G	NP_009225.1:p.Thr1691Arg
NM_007297.3:c.4931C>G	NP_009228.2:p.Thr1644Arg
NM_007298.3:c.1760C>G	NP_009229.2:p.Thr587Arg
NM_007299.3:c.1760C>G	NP_009230.2:p.Thr587Arg
NM_007300.3:c.5135C>G	NP_009231.2:p.Thr1712Arg
NR_027676.1:n.5208C>G
NM_007294.4:c.5072C>G MANE Select	NP_009225.1:p.Thr1691Arg
NM_007297.4:c.4931C>G	NP_009228.2:p.Thr1644Arg
NM_007299.4:c.1760C>G	NP_009230.2:p.Thr587Arg
NM_007300.4:c.5135C>G	NP_009231.2:p.Thr1712Arg
NR_027676.2:n.5249C>G