Canonical Allele Identifier: CA10591088

Gene: BRCA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5227G>T MANE Select	NP_009225.1:p.Gly1743Ter
ENST00000357654.9:c.5227G>T MANE Select	ENSP00000350283.3:p.Gly1743Ter
NM_007294.3:c.5227G>T , LRG_292t1:c.5227G>T	NP_009225.1:p.Gly1743Ter
NM_007297.3:c.5086G>T	NP_009228.2:p.Gly1696Ter
NM_007297.4:c.5086G>T	NP_009228.2:p.Gly1696Ter
NM_007298.3:c.1915G>T	NP_009229.2:p.Gly639Ter
NM_007299.3:c.1915G>T	NP_009230.2:p.Gly639Ter
NM_007299.4:c.1915G>T	NP_009230.2:p.Gly639Ter
NM_007300.3:c.5290G>T	NP_009231.2:p.Gly1764Ter
NM_007300.4:c.5290G>T	NP_009231.2:p.Gly1764Ter
NR_027676.1:n.5363G>T
NR_027676.2:n.5404G>T
ENST00000352993.7:c.1801G>T	ENSP00000312236.5:p.Gly601Ter
ENST00000357654.7:c.5227G>T	ENSP00000350283.3:p.Gly1743Ter
ENST00000461221.5:c.*5010G>T	ENSP00000418548.1:n.*5010G>T
ENST00000461574.2:c.5224G>T	ENSP00000417241.2:p.Gly1742Ter
ENST00000468300.5:c.1915G>T	ENSP00000417148.1:p.Gly639Ter
ENST00000470026.6:c.5227G>T	ENSP00000419274.2:p.Gly1743Ter
ENST00000471181.6:c.5290G>T	ENSP00000418960.2:p.Gly1764Ter
ENST00000471181.7:c.5290G>T	ENSP00000418960.2:p.Gly1764Ter
ENST00000473961.6:c.5101G>T	ENSP00000420201.2:p.Gly1701Ter
ENST00000476777.6:c.5221G>T	ENSP00000417554.2:p.Gly1741Ter
ENST00000477152.6:c.5149G>T	ENSP00000419988.2:p.Gly1717Ter
ENST00000478531.6:c.1915G>T	ENSP00000420412.2:p.Gly639Ter
ENST00000484087.6:c.1789G>T	ENSP00000419481.2:p.Gly597Ter
ENST00000489037.2:c.5149G>T	ENSP00000420781.2:p.Gly1717Ter
ENST00000491747.6:c.1915G>T	ENSP00000420705.2:p.Gly639Ter
ENST00000493795.5:c.5086G>T	ENSP00000418775.1:p.Gly1696Ter
ENST00000493919.6:c.1777G>T	ENSP00000418819.2:p.Gly593Ter
ENST00000494123.6:c.5227G>T	ENSP00000419103.2:p.Gly1743Ter
ENST00000497488.2:c.4339G>T	ENSP00000418986.2:p.Gly1447Ter
ENST00000586385.5:c.157G>T	ENSP00000465818.1:p.Gly53Ter
ENST00000591534.5:c.700G>T	ENSP00000467329.1:p.Gly234Ter
ENST00000591849.5:c.-98-6912G>T	ENSP00000465347.1:n.-98-6912G>T
ENST00000618469.2:c.5227G>T	ENSP00000478114.2:p.Gly1743Ter
ENST00000634433.2:c.5104G>T	ENSP00000489431.2:p.Gly1702Ter
ENST00000644379.1:c.1614G>T
ENST00000644379.2:c.5293G>T	ENSP00000496570.2:p.Gly1765Ter
ENST00000644555.2:c.1777G>T	ENSP00000494614.2:p.Gly593Ter
ENST00000652672.2:c.5086G>T	ENSP00000498906.2:p.Gly1696Ter