Canonical Allele Identifier: CA10591090

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057102C>T , CM000679.2:g.43057102C>T	GRCh38
NC_000017.10:g.41209119C>T , CM000679.1:g.41209119C>T	GRCh37
NC_000017.9:g.38462645C>T	NCBI36
NG_005905.2:g.160882G>A , LRG_292:g.160882G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5227G>A MANE Select	NP_009225.1:p.Gly1743Arg
ENST00000357654.9:c.5227G>A MANE Select	ENSP00000350283.3:p.Gly1743Arg
NM_007294.3:c.5227G>A , LRG_292t1:c.5227G>A	NP_009225.1:p.Gly1743Arg
NM_007297.3:c.5086G>A	NP_009228.2:p.Gly1696Arg
NM_007297.4:c.5086G>A	NP_009228.2:p.Gly1696Arg
NM_007298.3:c.1915G>A	NP_009229.2:p.Gly639Arg
NM_007299.3:c.1915G>A	NP_009230.2:p.Gly639Arg
NM_007299.4:c.1915G>A	NP_009230.2:p.Gly639Arg
NM_007300.3:c.5290G>A	NP_009231.2:p.Gly1764Arg
NM_007300.4:c.5290G>A	NP_009231.2:p.Gly1764Arg
NR_027676.1:n.5363G>A
NR_027676.2:n.5404G>A
ENST00000352993.7:c.1801G>A	ENSP00000312236.5:p.Gly601Arg
ENST00000357654.7:c.5227G>A	ENSP00000350283.3:p.Gly1743Arg
ENST00000461221.5:c.*5010G>A	ENSP00000418548.1:n.*5010G>A
ENST00000461574.2:c.5224G>A	ENSP00000417241.2:p.Gly1742Arg
ENST00000468300.5:c.1915G>A	ENSP00000417148.1:p.Gly639Arg
ENST00000470026.6:c.5227G>A	ENSP00000419274.2:p.Gly1743Arg
ENST00000471181.6:c.5290G>A	ENSP00000418960.2:p.Gly1764Arg
ENST00000471181.7:c.5290G>A	ENSP00000418960.2:p.Gly1764Arg
ENST00000473961.6:c.5101G>A	ENSP00000420201.2:p.Gly1701Arg
ENST00000476777.6:c.5221G>A	ENSP00000417554.2:p.Gly1741Arg
ENST00000477152.6:c.5149G>A	ENSP00000419988.2:p.Gly1717Arg
ENST00000478531.6:c.1915G>A	ENSP00000420412.2:p.Gly639Arg
ENST00000484087.6:c.1789G>A	ENSP00000419481.2:p.Gly597Arg
ENST00000489037.2:c.5149G>A	ENSP00000420781.2:p.Gly1717Arg
ENST00000491747.6:c.1915G>A	ENSP00000420705.2:p.Gly639Arg
ENST00000493795.5:c.5086G>A	ENSP00000418775.1:p.Gly1696Arg
ENST00000493919.6:c.1777G>A	ENSP00000418819.2:p.Gly593Arg
ENST00000494123.6:c.5227G>A	ENSP00000419103.2:p.Gly1743Arg
ENST00000497488.2:c.4339G>A	ENSP00000418986.2:p.Gly1447Arg
ENST00000586385.5:c.157G>A	ENSP00000465818.1:p.Gly53Arg
ENST00000591534.5:c.700G>A	ENSP00000467329.1:p.Gly234Arg
ENST00000591849.5:c.-98-6912G>A	ENSP00000465347.1:n.-98-6912G>A
ENST00000618469.2:c.5227G>A	ENSP00000478114.2:p.Gly1743Arg
ENST00000634433.2:c.5104G>A	ENSP00000489431.2:p.Gly1702Arg
ENST00000644379.1:c.1614G>A
ENST00000644379.2:c.5293G>A	ENSP00000496570.2:p.Gly1765Arg
ENST00000644555.2:c.1777G>A	ENSP00000494614.2:p.Gly593Arg
ENST00000652672.2:c.5086G>A	ENSP00000498906.2:p.Gly1696Arg