Canonical Allele Identifier: CA003352

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55454
• ClinVar RCV Id: RCV001072513 ; RCV000576932
• dbSNP Id: rs397509237
• MyVariant Identifiers: chr17:g.41209145A>G (hg19) ; chr17:g.43057128A>G (hg38)
• PubMed: PMID:12497638

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057128A>G , CM000679.2:g.43057128A>G	GRCh38
NC_000017.10:g.41209145A>G , CM000679.1:g.41209145A>G	GRCh37
NC_000017.9:g.38462671A>G	NCBI36
NG_005905.2:g.160856T>C , LRG_292:g.160856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5198T>C	ENSP00000417241.2:p.Phe1733Ser
ENST00000470026.6:c.5201T>C	ENSP00000419274.2:p.Phe1734Ser
ENST00000473961.6:c.5075T>C	ENSP00000420201.2:p.Phe1692Ser
ENST00000476777.6:c.5195T>C	ENSP00000417554.2:p.Phe1732Ser
ENST00000477152.6:c.5123T>C	ENSP00000419988.2:p.Phe1708Ser
ENST00000478531.6:c.1889T>C	ENSP00000420412.2:p.Phe630Ser
ENST00000489037.2:c.5123T>C	ENSP00000420781.2:p.Phe1708Ser
ENST00000493919.6:c.1751T>C	ENSP00000418819.2:p.Phe584Ser
ENST00000494123.6:c.5201T>C	ENSP00000419103.2:p.Phe1734Ser
ENST00000497488.2:c.4313T>C	ENSP00000418986.2:p.Phe1438Ser
ENST00000618469.2:c.5201T>C	ENSP00000478114.2:p.Phe1734Ser
ENST00000634433.2:c.5078T>C	ENSP00000489431.2:p.Phe1693Ser
ENST00000644379.2:c.5267T>C	ENSP00000496570.2:p.Phe1756Ser
ENST00000644555.2:c.1751T>C	ENSP00000494614.2:p.Phe584Ser
ENST00000652672.2:c.5060T>C	ENSP00000498906.2:p.Phe1687Ser
ENST00000484087.6:c.1763T>C	ENSP00000419481.2:p.Phe588Ser
ENST00000357654.9:c.5201T>C MANE Select	ENSP00000350283.3:p.Phe1734Ser
ENST00000471181.7:c.5264T>C	ENSP00000418960.2:p.Phe1755Ser
ENST00000644379.1:c.1588T>C
ENST00000352993.7:c.1775T>C	ENSP00000312236.5:p.Phe592Ser
ENST00000357654.7:c.5201T>C	ENSP00000350283.3:p.Phe1734Ser
ENST00000461221.5:c.*4984T>C	ENSP00000418548.1:n.*4984T>C
ENST00000468300.5:c.1889T>C	ENSP00000417148.1:p.Phe630Ser
ENST00000471181.6:c.5264T>C	ENSP00000418960.2:p.Phe1755Ser
ENST00000491747.6:c.1889T>C	ENSP00000420705.2:p.Phe630Ser
ENST00000493795.5:c.5060T>C	ENSP00000418775.1:p.Phe1687Ser
ENST00000586385.5:c.131T>C	ENSP00000465818.1:p.Phe44Ser
ENST00000591534.5:c.674T>C	ENSP00000467329.1:p.Phe225Ser
ENST00000591849.5:c.-98-6938T>C	ENSP00000465347.1:n.-98-6938T>C
NM_007294.3:c.5201T>C , LRG_292t1:c.5201T>C	NP_009225.1:p.Phe1734Ser
NM_007297.3:c.5060T>C	NP_009228.2:p.Phe1687Ser
NM_007298.3:c.1889T>C	NP_009229.2:p.Phe630Ser
NM_007299.3:c.1889T>C	NP_009230.2:p.Phe630Ser
NM_007300.3:c.5264T>C	NP_009231.2:p.Phe1755Ser
NR_027676.1:n.5337T>C
NM_007294.4:c.5201T>C MANE Select	NP_009225.1:p.Phe1734Ser
NM_007297.4:c.5060T>C	NP_009228.2:p.Phe1687Ser
NM_007299.4:c.1889T>C	NP_009230.2:p.Phe630Ser
NM_007300.4:c.5264T>C	NP_009231.2:p.Phe1755Ser
NR_027676.2:n.5378T>C