Canonical Allele Identifier: CA10590184

Gene: BRCA1

Linked Data

• dbSNP Id: rs2152493192
• MyVariant Identifiers: chr17:g.41197717T>C (hg19) ; chr17:g.43045700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045700T>C , CM000679.2:g.43045700T>C	GRCh38
NC_000017.10:g.41197717T>C , CM000679.1:g.41197717T>C	GRCh37
NC_000017.9:g.38451243T>C	NCBI36
NG_005905.2:g.172284A>G , LRG_292:g.172284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5567A>G	ENSP00000417241.2:p.Gln1856Arg
ENST00000470026.6:c.5570A>G	ENSP00000419274.2:p.Gln1857Arg
ENST00000473961.6:c.5444A>G	ENSP00000420201.2:p.Gln1815Arg
ENST00000476777.6:c.5564A>G	ENSP00000417554.2:p.Gln1855Arg
ENST00000477152.6:c.5492A>G	ENSP00000419988.2:p.Gln1831Arg
ENST00000478531.6:c.2258A>G	ENSP00000420412.2:p.Gln753Arg
ENST00000489037.2:c.5492A>G	ENSP00000420781.2:p.Gln1831Arg
ENST00000493919.6:c.2120A>G	ENSP00000418819.2:p.Gln707Arg
ENST00000494123.6:c.5570A>G	ENSP00000419103.2:p.Gln1857Arg
ENST00000497488.2:c.4682A>G	ENSP00000418986.2:p.Gln1561Arg
ENST00000618469.2:c.5570A>G	ENSP00000478114.2:p.Gln1857Arg
ENST00000634433.2:c.5447A>G	ENSP00000489431.2:p.Gln1816Arg
ENST00000644379.2:c.5636A>G	ENSP00000496570.2:p.Gln1879Arg
ENST00000644555.2:c.2120A>G	ENSP00000494614.2:p.Gln707Arg
ENST00000652672.2:c.5429A>G	ENSP00000498906.2:p.Gln1810Arg
ENST00000484087.6:c.2132A>G	ENSP00000419481.2:p.Gln711Arg
ENST00000700081.1:n.1453A>G
ENST00000700082.1:n.934A>G
ENST00000357654.9:c.5570A>G MANE Select	ENSP00000350283.3:p.Gln1857Arg
ENST00000471181.7:c.5633A>G	ENSP00000418960.2:p.Gln1878Arg
ENST00000644379.1:c.1957A>G
ENST00000352993.7:c.2144A>G	ENSP00000312236.5:p.Gln715Arg
ENST00000357654.7:c.5570A>G	ENSP00000350283.3:p.Gln1857Arg
ENST00000461221.5:c.*5353A>G	ENSP00000418548.1:n.*5353A>G
ENST00000468300.5:c.*84A>G	ENSP00000417148.1:n.*84A>G
ENST00000471181.6:c.5633A>G	ENSP00000418960.2:p.Gln1878Arg
ENST00000491747.6:c.2258A>G	ENSP00000420705.2:p.Gln753Arg
ENST00000493795.5:c.5429A>G	ENSP00000418775.1:p.Gln1810Arg
ENST00000586385.5:c.500A>G	ENSP00000465818.1:p.Gln167Arg
ENST00000591534.5:c.1043A>G	ENSP00000467329.1:p.Gln348Arg
ENST00000591849.5:c.269A>G	ENSP00000465347.1:p.Gln90Arg
NM_007294.3:c.5570A>G , LRG_292t1:c.5570A>G	NP_009225.1:p.Gln1857Arg
NM_007297.3:c.5429A>G	NP_009228.2:p.Gln1810Arg
NM_007298.3:c.2258A>G	NP_009229.2:p.Gln753Arg
NM_007299.3:c.*84A>G	NP_009230.2:n.*84A>G
NM_007300.3:c.5633A>G	NP_009231.2:p.Gln1878Arg
NR_027676.1:n.5706A>G
NM_007294.4:c.5570A>G MANE Select	NP_009225.1:p.Gln1857Arg
NM_007297.4:c.5429A>G	NP_009228.2:p.Gln1810Arg
NM_007299.4:c.*84A>G	NP_009230.2:n.*84A>G
NM_007300.4:c.5633A>G	NP_009231.2:p.Gln1878Arg
NR_027676.2:n.5747A>G