Canonical Allele Identifier: CA10590980

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 440481
• ClinVar RCV Id: RCV000508677 ; RCV001076012 ; RCV001254335
• dbSNP Id: rs80356905
• MyVariant Identifiers: chr17:g.41203130A>C (hg19) ; chr17:g.43051113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051113A>C , CM000679.2:g.43051113A>C	GRCh38
NC_000017.10:g.41203130A>C , CM000679.1:g.41203130A>C	GRCh37
NC_000017.9:g.38456656A>C	NCBI36
NG_005905.2:g.166871T>G , LRG_292:g.166871T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5279T>G	ENSP00000417241.2:p.Phe1760Cys
ENST00000470026.6:c.5282T>G	ENSP00000419274.2:p.Phe1761Cys
ENST00000473961.6:c.5156T>G	ENSP00000420201.2:p.Phe1719Cys
ENST00000476777.6:c.5276T>G	ENSP00000417554.2:p.Phe1759Cys
ENST00000477152.6:c.5204T>G	ENSP00000419988.2:p.Phe1735Cys
ENST00000478531.6:c.1970T>G	ENSP00000420412.2:p.Phe657Cys
ENST00000489037.2:c.5204T>G	ENSP00000420781.2:p.Phe1735Cys
ENST00000493919.6:c.1832T>G	ENSP00000418819.2:p.Phe611Cys
ENST00000494123.6:c.5282T>G	ENSP00000419103.2:p.Phe1761Cys
ENST00000497488.2:c.4394T>G	ENSP00000418986.2:p.Phe1465Cys
ENST00000618469.2:c.5282T>G	ENSP00000478114.2:p.Phe1761Cys
ENST00000634433.2:c.5159T>G	ENSP00000489431.2:p.Phe1720Cys
ENST00000644379.2:c.5348T>G	ENSP00000496570.2:p.Phe1783Cys
ENST00000644555.2:c.1832T>G	ENSP00000494614.2:p.Phe611Cys
ENST00000652672.2:c.5141T>G	ENSP00000498906.2:p.Phe1714Cys
ENST00000484087.6:c.1844T>G	ENSP00000419481.2:p.Phe615Cys
ENST00000357654.9:c.5282T>G MANE Select	ENSP00000350283.3:p.Phe1761Cys
ENST00000471181.7:c.5345T>G	ENSP00000418960.2:p.Phe1782Cys
ENST00000644379.1:c.1669T>G
ENST00000352993.7:c.1856T>G	ENSP00000312236.5:p.Phe619Cys
ENST00000357654.7:c.5282T>G	ENSP00000350283.3:p.Phe1761Cys
ENST00000461221.5:c.*5065T>G	ENSP00000418548.1:n.*5065T>G
ENST00000468300.5:c.1970T>G	ENSP00000417148.1:p.Phe657Cys
ENST00000471181.6:c.5345T>G	ENSP00000418960.2:p.Phe1782Cys
ENST00000491747.6:c.1970T>G	ENSP00000420705.2:p.Phe657Cys
ENST00000493795.5:c.5141T>G	ENSP00000418775.1:p.Phe1714Cys
ENST00000586385.5:c.212T>G	ENSP00000465818.1:p.Phe71Cys
ENST00000591534.5:c.755T>G	ENSP00000467329.1:p.Phe252Cys
ENST00000591849.5:c.-98-923T>G	ENSP00000465347.1:n.-98-923T>G
NM_007294.3:c.5282T>G , LRG_292t1:c.5282T>G	NP_009225.1:p.Phe1761Cys
NM_007297.3:c.5141T>G	NP_009228.2:p.Phe1714Cys
NM_007298.3:c.1970T>G	NP_009229.2:p.Phe657Cys
NM_007299.3:c.1970T>G	NP_009230.2:p.Phe657Cys
NM_007300.3:c.5345T>G	NP_009231.2:p.Phe1782Cys
NR_027676.1:n.5418T>G
NM_007294.4:c.5282T>G MANE Select	NP_009225.1:p.Phe1761Cys
NM_007297.4:c.5141T>G	NP_009228.2:p.Phe1714Cys
NM_007299.4:c.1970T>G	NP_009230.2:p.Phe657Cys
NM_007300.4:c.5345T>G	NP_009231.2:p.Phe1782Cys
NR_027676.2:n.5459T>G