Canonical Allele Identifier: CA002765

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185580
• ClinVar RCV Id: RCV000165024 ; RCV000237052 ; RCV002281983 ; RCV001340767
• dbSNP Id: rs786202288
• MyVariant Identifiers: chr17:g.41234459T>C (hg19) ; chr17:g.43082442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082442T>C , CM000679.2:g.43082442T>C	GRCh38
NC_000017.10:g.41234459T>C , CM000679.1:g.41234459T>C	GRCh37
NC_000017.9:g.38487985T>C	NCBI36
NG_005905.2:g.135542A>G , LRG_292:g.135542A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4319A>G	ENSP00000417241.2:p.Glu1440Gly
ENST00000470026.6:c.4319A>G	ENSP00000419274.2:p.Glu1440Gly
ENST00000473961.6:c.4193A>G	ENSP00000420201.2:p.Glu1398Gly
ENST00000476777.6:c.4313A>G	ENSP00000417554.2:p.Glu1438Gly
ENST00000477152.6:c.4241A>G	ENSP00000419988.2:p.Glu1414Gly
ENST00000478531.6:c.1007A>G	ENSP00000420412.2:p.Glu336Gly
ENST00000489037.2:c.4241A>G	ENSP00000420781.2:p.Glu1414Gly
ENST00000493919.6:c.869A>G	ENSP00000418819.2:p.Glu290Gly
ENST00000494123.6:c.4319A>G	ENSP00000419103.2:p.Glu1440Gly
ENST00000497488.2:c.3431A>G	ENSP00000418986.2:p.Glu1144Gly
ENST00000618469.2:c.4319A>G	ENSP00000478114.2:p.Glu1440Gly
ENST00000634433.2:c.4196A>G	ENSP00000489431.2:p.Glu1399Gly
ENST00000644379.2:c.4319A>G	ENSP00000496570.2:p.Glu1440Gly
ENST00000644555.2:c.869A>G	ENSP00000494614.2:p.Glu290Gly
ENST00000652672.2:c.4178A>G	ENSP00000498906.2:p.Glu1393Gly
ENST00000484087.6:c.884A>G	ENSP00000419481.2:p.Glu295Gly
ENST00000700182.1:c.929A>G	ENSP00000514849.1:p.Glu310Gly
ENST00000357654.9:c.4319A>G MANE Select	ENSP00000350283.3:p.Glu1440Gly
ENST00000471181.7:c.4319A>G	ENSP00000418960.2:p.Glu1440Gly
ENST00000644379.1:c.640A>G
ENST00000352993.7:c.893A>G	ENSP00000312236.5:p.Glu298Gly
ENST00000357654.7:c.4319A>G	ENSP00000350283.3:p.Glu1440Gly
ENST00000461221.5:c.*4102A>G	ENSP00000418548.1:n.*4102A>G
ENST00000461574.1:c.613A>G
ENST00000468300.5:c.1010A>G	ENSP00000417148.1:p.Glu337Gly
ENST00000471181.6:c.4319A>G	ENSP00000418960.2:p.Glu1440Gly
ENST00000478531.5:c.1007A>G	ENSP00000420412.1:p.Glu336Gly
ENST00000484087.5:c.632A>G	ENSP00000419481.1:p.Glu211Gly
ENST00000487825.5:c.635A>G	ENSP00000418212.1:p.Glu212Gly
ENST00000491747.6:c.1010A>G	ENSP00000420705.2:p.Glu337Gly
ENST00000493795.5:c.4178A>G	ENSP00000418775.1:p.Glu1393Gly
ENST00000493919.5:c.869A>G	ENSP00000418819.1:p.Glu290Gly
ENST00000586385.5:c.5-18491A>G	ENSP00000465818.1:n.5-18491A>G
ENST00000591534.5:c.-43-7921A>G	ENSP00000467329.1:n.-43-7921A>G
ENST00000591849.5:c.-98-32252A>G	ENSP00000465347.1:n.-98-32252A>G
ENST00000621897.1:n.213A>G
NM_007294.3:c.4319A>G , LRG_292t1:c.4319A>G	NP_009225.1:p.Glu1440Gly
NM_007297.3:c.4178A>G	NP_009228.2:p.Glu1393Gly
NM_007298.3:c.1010A>G	NP_009229.2:p.Glu337Gly
NM_007299.3:c.1010A>G	NP_009230.2:p.Glu337Gly
NM_007300.3:c.4319A>G	NP_009231.2:p.Glu1440Gly
NR_027676.1:n.4455A>G
NM_007294.4:c.4319A>G MANE Select	NP_009225.1:p.Glu1440Gly
NM_007297.4:c.4178A>G	NP_009228.2:p.Glu1393Gly
NM_007299.4:c.1010A>G	NP_009230.2:p.Glu337Gly
NM_007300.4:c.4319A>G	NP_009231.2:p.Glu1440Gly
NR_027676.2:n.4496A>G