Canonical Allele Identifier: CA10591214

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868766
• ClinVar RCV Id: RCV001077731 ; RCV001284400 ; RCV001862647
• dbSNP Id: rs80357104
• MyVariant Identifiers: chr17:g.41215378G>C (hg19) ; chr17:g.43063361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063361G>C , CM000679.2:g.43063361G>C	GRCh38
NC_000017.10:g.41215378G>C , CM000679.1:g.41215378G>C	GRCh37
NC_000017.9:g.38468904G>C	NCBI36
NG_005905.2:g.154623C>G , LRG_292:g.154623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5162C>G	ENSP00000417241.2:p.Ser1721Cys
ENST00000470026.6:c.5165C>G	ENSP00000419274.2:p.Ser1722Cys
ENST00000473961.6:c.5039C>G	ENSP00000420201.2:p.Ser1680Cys
ENST00000476777.6:c.5159C>G	ENSP00000417554.2:p.Ser1720Cys
ENST00000477152.6:c.5087C>G	ENSP00000419988.2:p.Ser1696Cys
ENST00000478531.6:c.1853C>G	ENSP00000420412.2:p.Ser618Cys
ENST00000489037.2:c.5087C>G	ENSP00000420781.2:p.Ser1696Cys
ENST00000493919.6:c.1715C>G	ENSP00000418819.2:p.Ser572Cys
ENST00000494123.6:c.5165C>G	ENSP00000419103.2:p.Ser1722Cys
ENST00000497488.2:c.4277C>G	ENSP00000418986.2:p.Ser1426Cys
ENST00000618469.2:c.5165C>G	ENSP00000478114.2:p.Ser1722Cys
ENST00000634433.2:c.5042C>G	ENSP00000489431.2:p.Ser1681Cys
ENST00000644379.2:c.5231C>G	ENSP00000496570.2:p.Ser1744Cys
ENST00000644555.2:c.1715C>G	ENSP00000494614.2:p.Ser572Cys
ENST00000652672.2:c.5024C>G	ENSP00000498906.2:p.Ser1675Cys
ENST00000484087.6:c.1727C>G	ENSP00000419481.2:p.Ser576Cys
ENST00000357654.9:c.5165C>G MANE Select	ENSP00000350283.3:p.Ser1722Cys
ENST00000471181.7:c.5228C>G	ENSP00000418960.2:p.Ser1743Cys
ENST00000644379.1:c.1552C>G
ENST00000352993.7:c.1739C>G	ENSP00000312236.5:p.Ser580Cys
ENST00000357654.7:c.5165C>G	ENSP00000350283.3:p.Ser1722Cys
ENST00000461221.5:c.*4948C>G	ENSP00000418548.1:n.*4948C>G
ENST00000468300.5:c.1853C>G	ENSP00000417148.1:p.Ser618Cys
ENST00000471181.6:c.5228C>G	ENSP00000418960.2:p.Ser1743Cys
ENST00000478531.5:c.1853C>G	ENSP00000420412.1:p.Ser618Cys
ENST00000484087.5:c.1478C>G	ENSP00000419481.1:p.Ser493Cys
ENST00000491747.6:c.1853C>G	ENSP00000420705.2:p.Ser618Cys
ENST00000493795.5:c.5024C>G	ENSP00000418775.1:p.Ser1675Cys
ENST00000493919.5:c.1715C>G	ENSP00000418819.1:p.Ser572Cys
ENST00000586385.5:c.95C>G	ENSP00000465818.1:p.Ser32Cys
ENST00000591534.5:c.638C>G	ENSP00000467329.1:p.Ser213Cys
ENST00000591849.5:c.-98-13171C>G	ENSP00000465347.1:n.-98-13171C>G
NM_007294.3:c.5165C>G , LRG_292t1:c.5165C>G	NP_009225.1:p.Ser1722Cys
NM_007297.3:c.5024C>G	NP_009228.2:p.Ser1675Cys
NM_007298.3:c.1853C>G	NP_009229.2:p.Ser618Cys
NM_007299.3:c.1853C>G	NP_009230.2:p.Ser618Cys
NM_007300.3:c.5228C>G	NP_009231.2:p.Ser1743Cys
NR_027676.1:n.5301C>G
NM_007294.4:c.5165C>G MANE Select	NP_009225.1:p.Ser1722Cys
NM_007297.4:c.5024C>G	NP_009228.2:p.Ser1675Cys
NM_007299.4:c.1853C>G	NP_009230.2:p.Ser618Cys
NM_007300.4:c.5228C>G	NP_009231.2:p.Ser1743Cys
NR_027676.2:n.5342C>G