Canonical Allele Identifier: CA003639

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 143005
• ClinVar RCV Id: RCV000132524 ; RCV001077976 ; RCV002298482
• dbSNP Id: rs587782887
• MyVariant Identifiers: chr17:g.41197811G>T (hg19) ; chr17:g.43045794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045794G>T , CM000679.2:g.43045794G>T	GRCh38
NC_000017.10:g.41197811G>T , CM000679.1:g.41197811G>T	GRCh37
NC_000017.9:g.38451337G>T	NCBI36
NG_005905.2:g.172190C>A , LRG_292:g.172190C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5473C>A	ENSP00000417241.2:p.Gln1825Lys
ENST00000470026.6:c.5476C>A	ENSP00000419274.2:p.Gln1826Lys
ENST00000473961.6:c.5350C>A	ENSP00000420201.2:p.Gln1784Lys
ENST00000476777.6:c.5470C>A	ENSP00000417554.2:p.Gln1824Lys
ENST00000477152.6:c.5398C>A	ENSP00000419988.2:p.Gln1800Lys
ENST00000478531.6:c.2164C>A	ENSP00000420412.2:p.Gln722Lys
ENST00000489037.2:c.5398C>A	ENSP00000420781.2:p.Gln1800Lys
ENST00000493919.6:c.2026C>A	ENSP00000418819.2:p.Gln676Lys
ENST00000494123.6:c.5476C>A	ENSP00000419103.2:p.Gln1826Lys
ENST00000497488.2:c.4588C>A	ENSP00000418986.2:p.Gln1530Lys
ENST00000618469.2:c.5476C>A	ENSP00000478114.2:p.Gln1826Lys
ENST00000634433.2:c.5353C>A	ENSP00000489431.2:p.Gln1785Lys
ENST00000644379.2:c.5542C>A	ENSP00000496570.2:p.Gln1848Lys
ENST00000644555.2:c.2026C>A	ENSP00000494614.2:p.Gln676Lys
ENST00000652672.2:c.5335C>A	ENSP00000498906.2:p.Gln1779Lys
ENST00000484087.6:c.2038C>A	ENSP00000419481.2:p.Gln680Lys
ENST00000700081.1:n.1359C>A
ENST00000700082.1:n.840C>A
ENST00000357654.9:c.5476C>A MANE Select	ENSP00000350283.3:p.Gln1826Lys
ENST00000471181.7:c.5539C>A	ENSP00000418960.2:p.Gln1847Lys
ENST00000644379.1:c.1863C>A
ENST00000352993.7:c.2050C>A	ENSP00000312236.5:p.Gln684Lys
ENST00000357654.7:c.5476C>A	ENSP00000350283.3:p.Gln1826Lys
ENST00000461221.5:c.*5259C>A	ENSP00000418548.1:n.*5259C>A
ENST00000468300.5:c.2090C>A	ENSP00000417148.1:p.Ala697Glu
ENST00000471181.6:c.5539C>A	ENSP00000418960.2:p.Gln1847Lys
ENST00000491747.6:c.2164C>A	ENSP00000420705.2:p.Gln722Lys
ENST00000493795.5:c.5335C>A	ENSP00000418775.1:p.Gln1779Lys
ENST00000586385.5:c.406C>A	ENSP00000465818.1:p.Gln136Lys
ENST00000591534.5:c.949C>A	ENSP00000467329.1:p.Gln317Lys
ENST00000591849.5:c.175C>A	ENSP00000465347.1:p.Gln59Lys
NM_007294.3:c.5476C>A , LRG_292t1:c.5476C>A	NP_009225.1:p.Gln1826Lys
NM_007297.3:c.5335C>A	NP_009228.2:p.Gln1779Lys
NM_007298.3:c.2164C>A	NP_009229.2:p.Gln722Lys
NM_007299.3:c.2090C>A	NP_009230.2:p.Ala697Glu
NM_007300.3:c.5539C>A	NP_009231.2:p.Gln1847Lys
NR_027676.1:n.5612C>A
NM_007294.4:c.5476C>A MANE Select	NP_009225.1:p.Gln1826Lys
NM_007297.4:c.5335C>A	NP_009228.2:p.Gln1779Lys
NM_007299.4:c.2090C>A	NP_009230.2:p.Ala697Glu
NM_007300.4:c.5539C>A	NP_009231.2:p.Gln1847Lys
NR_027676.2:n.5653C>A