Canonical Allele Identifier: CA501117

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267219
• ClinVar RCV Id: RCV000257949 ; RCV001077614 ; RCV001182323 ; RCV001383769
• dbSNP Id: rs886040864
• MyVariant Identifiers: chr17:g.41215927C>G (hg19) ; chr17:g.43063910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063910C>G , CM000679.2:g.43063910C>G	GRCh38
NC_000017.10:g.41215927C>G , CM000679.1:g.41215927C>G	GRCh37
NC_000017.9:g.38469453C>G	NCBI36
NG_005905.2:g.154074G>C , LRG_292:g.154074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5113G>C	ENSP00000417241.2:p.Gly1705Arg
ENST00000470026.6:c.5116G>C	ENSP00000419274.2:p.Gly1706Arg
ENST00000473961.6:c.4990G>C	ENSP00000420201.2:p.Gly1664Arg
ENST00000476777.6:c.5110G>C	ENSP00000417554.2:p.Gly1704Arg
ENST00000477152.6:c.5038G>C	ENSP00000419988.2:p.Gly1680Arg
ENST00000478531.6:c.1804G>C	ENSP00000420412.2:p.Gly602Arg
ENST00000489037.2:c.5038G>C	ENSP00000420781.2:p.Gly1680Arg
ENST00000493919.6:c.1666G>C	ENSP00000418819.2:p.Gly556Arg
ENST00000494123.6:c.5116G>C	ENSP00000419103.2:p.Gly1706Arg
ENST00000497488.2:c.4228G>C	ENSP00000418986.2:p.Gly1410Arg
ENST00000618469.2:c.5116G>C	ENSP00000478114.2:p.Gly1706Arg
ENST00000634433.2:c.4993G>C	ENSP00000489431.2:p.Gly1665Arg
ENST00000644379.2:c.5182G>C	ENSP00000496570.2:p.Gly1728Arg
ENST00000644555.2:c.1666G>C	ENSP00000494614.2:p.Gly556Arg
ENST00000652672.2:c.4975G>C	ENSP00000498906.2:p.Gly1659Arg
ENST00000484087.6:c.1678G>C	ENSP00000419481.2:p.Gly560Arg
ENST00000357654.9:c.5116G>C MANE Select	ENSP00000350283.3:p.Gly1706Arg
ENST00000471181.7:c.5179G>C	ENSP00000418960.2:p.Gly1727Arg
ENST00000644379.1:c.1503G>C
ENST00000352993.7:c.1690G>C	ENSP00000312236.5:p.Gly564Arg
ENST00000357654.7:c.5116G>C	ENSP00000350283.3:p.Gly1706Arg
ENST00000461221.5:c.*4899G>C	ENSP00000418548.1:n.*4899G>C
ENST00000468300.5:c.1804G>C	ENSP00000417148.1:p.Gly602Arg
ENST00000471181.6:c.5179G>C	ENSP00000418960.2:p.Gly1727Arg
ENST00000478531.5:c.1804G>C	ENSP00000420412.1:p.Gly602Arg
ENST00000484087.5:c.1429G>C	ENSP00000419481.1:p.Gly477Arg
ENST00000491747.6:c.1804G>C	ENSP00000420705.2:p.Gly602Arg
ENST00000493795.5:c.4975G>C	ENSP00000418775.1:p.Gly1659Arg
ENST00000493919.5:c.1666G>C	ENSP00000418819.1:p.Gly556Arg
ENST00000586385.5:c.46G>C	ENSP00000465818.1:p.Gly16Arg
ENST00000591534.5:c.589G>C	ENSP00000467329.1:p.Gly197Arg
ENST00000591849.5:c.-98-13720G>C	ENSP00000465347.1:n.-98-13720G>C
NM_007294.3:c.5116G>C , LRG_292t1:c.5116G>C	NP_009225.1:p.Gly1706Arg
NM_007297.3:c.4975G>C	NP_009228.2:p.Gly1659Arg
NM_007298.3:c.1804G>C	NP_009229.2:p.Gly602Arg
NM_007299.3:c.1804G>C	NP_009230.2:p.Gly602Arg
NM_007300.3:c.5179G>C	NP_009231.2:p.Gly1727Arg
NR_027676.1:n.5252G>C
NM_007294.4:c.5116G>C MANE Select	NP_009225.1:p.Gly1706Arg
NM_007297.4:c.4975G>C	NP_009228.2:p.Gly1659Arg
NM_007299.4:c.1804G>C	NP_009230.2:p.Gly602Arg
NM_007300.4:c.5179G>C	NP_009231.2:p.Gly1727Arg
NR_027676.2:n.5293G>C