Canonical Allele Identifier: CA003442

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55505
• ClinVar RCV Id: RCV000131349 ; RCV000112600 ; RCV001194348
• dbSNP Id: rs80356905
• MyVariant Identifiers: chr17:g.41203130A>G (hg19) ; chr17:g.43051113A>G (hg38)
• PubMed: PMID:10811118 ; PMID:15172985 ; PMID:16101277 ; PMID:19016756 ; PMID:20516115

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5279T>C	ENSP00000417241.2:p.Phe1760Ser
ENST00000470026.6:c.5282T>C	ENSP00000419274.2:p.Phe1761Ser
ENST00000473961.6:c.5156T>C	ENSP00000420201.2:p.Phe1719Ser
ENST00000476777.6:c.5276T>C	ENSP00000417554.2:p.Phe1759Ser
ENST00000477152.6:c.5204T>C	ENSP00000419988.2:p.Phe1735Ser
ENST00000478531.6:c.1970T>C	ENSP00000420412.2:p.Phe657Ser
ENST00000489037.2:c.5204T>C	ENSP00000420781.2:p.Phe1735Ser
ENST00000493919.6:c.1832T>C	ENSP00000418819.2:p.Phe611Ser
ENST00000494123.6:c.5282T>C	ENSP00000419103.2:p.Phe1761Ser
ENST00000497488.2:c.4394T>C	ENSP00000418986.2:p.Phe1465Ser
ENST00000618469.2:c.5282T>C	ENSP00000478114.2:p.Phe1761Ser
ENST00000634433.2:c.5159T>C	ENSP00000489431.2:p.Phe1720Ser
ENST00000644379.2:c.5348T>C	ENSP00000496570.2:p.Phe1783Ser
ENST00000644555.2:c.1832T>C	ENSP00000494614.2:p.Phe611Ser
ENST00000652672.2:c.5141T>C	ENSP00000498906.2:p.Phe1714Ser
ENST00000484087.6:c.1844T>C	ENSP00000419481.2:p.Phe615Ser
ENST00000357654.9:c.5282T>C MANE Select	ENSP00000350283.3:p.Phe1761Ser
ENST00000471181.7:c.5345T>C	ENSP00000418960.2:p.Phe1782Ser
ENST00000644379.1:c.1669T>C
ENST00000352993.7:c.1856T>C	ENSP00000312236.5:p.Phe619Ser
ENST00000357654.7:c.5282T>C	ENSP00000350283.3:p.Phe1761Ser
ENST00000461221.5:c.*5065T>C	ENSP00000418548.1:n.*5065T>C
ENST00000468300.5:c.1970T>C	ENSP00000417148.1:p.Phe657Ser
ENST00000471181.6:c.5345T>C	ENSP00000418960.2:p.Phe1782Ser
ENST00000491747.6:c.1970T>C	ENSP00000420705.2:p.Phe657Ser
ENST00000493795.5:c.5141T>C	ENSP00000418775.1:p.Phe1714Ser
ENST00000586385.5:c.212T>C	ENSP00000465818.1:p.Phe71Ser
ENST00000591534.5:c.755T>C	ENSP00000467329.1:p.Phe252Ser
ENST00000591849.5:c.-98-923T>C	ENSP00000465347.1:n.-98-923T>C
NM_007294.3:c.5282T>C , LRG_292t1:c.5282T>C	NP_009225.1:p.Phe1761Ser
NM_007297.3:c.5141T>C	NP_009228.2:p.Phe1714Ser
NM_007298.3:c.1970T>C	NP_009229.2:p.Phe657Ser
NM_007299.3:c.1970T>C	NP_009230.2:p.Phe657Ser
NM_007300.3:c.5345T>C	NP_009231.2:p.Phe1782Ser
NR_027676.1:n.5418T>C
NM_007294.4:c.5282T>C MANE Select	NP_009225.1:p.Phe1761Ser
NM_007297.4:c.5141T>C	NP_009228.2:p.Phe1714Ser
NM_007299.4:c.1970T>C	NP_009230.2:p.Phe657Ser
NM_007300.4:c.5345T>C	NP_009231.2:p.Phe1782Ser
NR_027676.2:n.5459T>C