Canonical Allele Identifier: CA10591425

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067635C>T , CM000679.2:g.43067635C>T	GRCh38
NC_000017.10:g.41219652C>T , CM000679.1:g.41219652C>T	GRCh37
NC_000017.9:g.38473178C>T	NCBI36
NG_005905.2:g.150349G>A , LRG_292:g.150349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5044G>A	ENSP00000417241.2:p.Glu1682Lys
ENST00000470026.6:c.5047G>A	ENSP00000419274.2:p.Glu1683Lys
ENST00000473961.6:c.4921G>A	ENSP00000420201.2:p.Glu1641Lys
ENST00000476777.6:c.5041G>A	ENSP00000417554.2:p.Glu1681Lys
ENST00000477152.6:c.4969G>A	ENSP00000419988.2:p.Glu1657Lys
ENST00000478531.6:c.1735G>A	ENSP00000420412.2:p.Glu579Lys
ENST00000489037.2:c.4969G>A	ENSP00000420781.2:p.Glu1657Lys
ENST00000493919.6:c.1597G>A	ENSP00000418819.2:p.Glu533Lys
ENST00000494123.6:c.5047G>A	ENSP00000419103.2:p.Glu1683Lys
ENST00000497488.2:c.4159G>A	ENSP00000418986.2:p.Glu1387Lys
ENST00000618469.2:c.5047G>A	ENSP00000478114.2:p.Glu1683Lys
ENST00000634433.2:c.4924G>A	ENSP00000489431.2:p.Glu1642Lys
ENST00000644379.2:c.5113G>A	ENSP00000496570.2:p.Glu1705Lys
ENST00000644555.2:c.1597G>A	ENSP00000494614.2:p.Glu533Lys
ENST00000652672.2:c.4906G>A	ENSP00000498906.2:p.Glu1636Lys
ENST00000484087.6:c.1609G>A	ENSP00000419481.2:p.Glu537Lys
ENST00000357654.9:c.5047G>A MANE Select	ENSP00000350283.3:p.Glu1683Lys
ENST00000471181.7:c.5110G>A	ENSP00000418960.2:p.Glu1704Lys
ENST00000644379.1:c.1434G>A
ENST00000352993.7:c.1621G>A	ENSP00000312236.5:p.Glu541Lys
ENST00000357654.7:c.5047G>A	ENSP00000350283.3:p.Glu1683Lys
ENST00000461221.5:c.*4830G>A	ENSP00000418548.1:n.*4830G>A
ENST00000468300.5:c.1735G>A	ENSP00000417148.1:p.Glu579Lys
ENST00000471181.6:c.5110G>A	ENSP00000418960.2:p.Glu1704Lys
ENST00000472490.1:n.200G>A
ENST00000478531.5:c.1735G>A	ENSP00000420412.1:p.Glu579Lys
ENST00000484087.5:c.1360G>A	ENSP00000419481.1:p.Glu454Lys
ENST00000491747.6:c.1735G>A	ENSP00000420705.2:p.Glu579Lys
ENST00000493795.5:c.4906G>A	ENSP00000418775.1:p.Glu1636Lys
ENST00000493919.5:c.1597G>A	ENSP00000418819.1:p.Glu533Lys
ENST00000586385.5:c.5-3684G>A	ENSP00000465818.1:n.5-3684G>A
ENST00000591534.5:c.520G>A	ENSP00000467329.1:p.Glu174Lys
ENST00000591849.5:c.-98-17445G>A	ENSP00000465347.1:n.-98-17445G>A
NM_007294.3:c.5047G>A , LRG_292t1:c.5047G>A	NP_009225.1:p.Glu1683Lys
NM_007297.3:c.4906G>A	NP_009228.2:p.Glu1636Lys
NM_007298.3:c.1735G>A	NP_009229.2:p.Glu579Lys
NM_007299.3:c.1735G>A	NP_009230.2:p.Glu579Lys
NM_007300.3:c.5110G>A	NP_009231.2:p.Glu1704Lys
NR_027676.1:n.5183G>A
NM_007294.4:c.5047G>A MANE Select	NP_009225.1:p.Glu1683Lys
NM_007297.4:c.4906G>A	NP_009228.2:p.Glu1636Lys
NM_007299.4:c.1735G>A	NP_009230.2:p.Glu579Lys
NM_007300.4:c.5110G>A	NP_009231.2:p.Glu1704Lys
NR_027676.2:n.5224G>A