Canonical Allele Identifier: CA10591307

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864965
• ClinVar RCV Id: RCV001072272 ; RCV001314841
• dbSNP Id: rs1555578598
• MyVariant Identifiers: chr17:g.41215932A>G (hg19) ; chr17:g.43063915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063915A>G , CM000679.2:g.43063915A>G	GRCh38
NC_000017.10:g.41215932A>G , CM000679.1:g.41215932A>G	GRCh37
NC_000017.9:g.38469458A>G	NCBI36
NG_005905.2:g.154069T>C , LRG_292:g.154069T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5108T>C	ENSP00000417241.2:p.Phe1703Ser
ENST00000470026.6:c.5111T>C	ENSP00000419274.2:p.Phe1704Ser
ENST00000473961.6:c.4985T>C	ENSP00000420201.2:p.Phe1662Ser
ENST00000476777.6:c.5105T>C	ENSP00000417554.2:p.Phe1702Ser
ENST00000477152.6:c.5033T>C	ENSP00000419988.2:p.Phe1678Ser
ENST00000478531.6:c.1799T>C	ENSP00000420412.2:p.Phe600Ser
ENST00000489037.2:c.5033T>C	ENSP00000420781.2:p.Phe1678Ser
ENST00000493919.6:c.1661T>C	ENSP00000418819.2:p.Phe554Ser
ENST00000494123.6:c.5111T>C	ENSP00000419103.2:p.Phe1704Ser
ENST00000497488.2:c.4223T>C	ENSP00000418986.2:p.Phe1408Ser
ENST00000618469.2:c.5111T>C	ENSP00000478114.2:p.Phe1704Ser
ENST00000634433.2:c.4988T>C	ENSP00000489431.2:p.Phe1663Ser
ENST00000644379.2:c.5177T>C	ENSP00000496570.2:p.Phe1726Ser
ENST00000644555.2:c.1661T>C	ENSP00000494614.2:p.Phe554Ser
ENST00000652672.2:c.4970T>C	ENSP00000498906.2:p.Phe1657Ser
ENST00000484087.6:c.1673T>C	ENSP00000419481.2:p.Phe558Ser
ENST00000357654.9:c.5111T>C MANE Select	ENSP00000350283.3:p.Phe1704Ser
ENST00000471181.7:c.5174T>C	ENSP00000418960.2:p.Phe1725Ser
ENST00000644379.1:c.1498T>C
ENST00000352993.7:c.1685T>C	ENSP00000312236.5:p.Phe562Ser
ENST00000357654.7:c.5111T>C	ENSP00000350283.3:p.Phe1704Ser
ENST00000461221.5:c.*4894T>C	ENSP00000418548.1:n.*4894T>C
ENST00000468300.5:c.1799T>C	ENSP00000417148.1:p.Phe600Ser
ENST00000471181.6:c.5174T>C	ENSP00000418960.2:p.Phe1725Ser
ENST00000478531.5:c.1799T>C	ENSP00000420412.1:p.Phe600Ser
ENST00000484087.5:c.1424T>C	ENSP00000419481.1:p.Phe475Ser
ENST00000491747.6:c.1799T>C	ENSP00000420705.2:p.Phe600Ser
ENST00000493795.5:c.4970T>C	ENSP00000418775.1:p.Phe1657Ser
ENST00000493919.5:c.1661T>C	ENSP00000418819.1:p.Phe554Ser
ENST00000586385.5:c.41T>C	ENSP00000465818.1:p.Phe14Ser
ENST00000591534.5:c.584T>C	ENSP00000467329.1:p.Phe195Ser
ENST00000591849.5:c.-98-13725T>C	ENSP00000465347.1:n.-98-13725T>C
NM_007294.3:c.5111T>C , LRG_292t1:c.5111T>C	NP_009225.1:p.Phe1704Ser
NM_007297.3:c.4970T>C	NP_009228.2:p.Phe1657Ser
NM_007298.3:c.1799T>C	NP_009229.2:p.Phe600Ser
NM_007299.3:c.1799T>C	NP_009230.2:p.Phe600Ser
NM_007300.3:c.5174T>C	NP_009231.2:p.Phe1725Ser
NR_027676.1:n.5247T>C
NM_007294.4:c.5111T>C MANE Select	NP_009225.1:p.Phe1704Ser
NM_007297.4:c.4970T>C	NP_009228.2:p.Phe1657Ser
NM_007299.4:c.1799T>C	NP_009230.2:p.Phe600Ser
NM_007300.4:c.5174T>C	NP_009231.2:p.Phe1725Ser
NR_027676.2:n.5288T>C