Canonical Allele Identifier: CA10591996

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071158C>A , CM000679.2:g.43071158C>A	GRCh38
NC_000017.10:g.41223175C>A , CM000679.1:g.41223175C>A	GRCh37
NC_000017.9:g.38476701C>A	NCBI36
NG_005905.2:g.146826G>T , LRG_292:g.146826G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4756G>T MANE Select	NP_009225.1:p.Glu1586Ter
ENST00000357654.9:c.4756G>T MANE Select	ENSP00000350283.3:p.Glu1586Ter
NM_007294.3:c.4756G>T , LRG_292t1:c.4756G>T	NP_009225.1:p.Glu1586Ter
NM_007297.3:c.4615G>T	NP_009228.2:p.Glu1539Ter
NM_007297.4:c.4615G>T	NP_009228.2:p.Glu1539Ter
NM_007298.3:c.1444G>T	NP_009229.2:p.Glu482Ter
NM_007299.3:c.1444G>T	NP_009230.2:p.Glu482Ter
NM_007299.4:c.1444G>T	NP_009230.2:p.Glu482Ter
NM_007300.3:c.4819G>T	NP_009231.2:p.Glu1607Ter
NM_007300.4:c.4819G>T	NP_009231.2:p.Glu1607Ter
NR_027676.1:n.4892G>T
NR_027676.2:n.4933G>T
ENST00000352993.7:c.1330G>T	ENSP00000312236.5:p.Glu444Ter
ENST00000357654.7:c.4756G>T	ENSP00000350283.3:p.Glu1586Ter
ENST00000461221.5:c.*4539G>T	ENSP00000418548.1:n.*4539G>T
ENST00000461574.2:c.4753G>T	ENSP00000417241.2:p.Glu1585Ter
ENST00000468300.5:c.1444G>T	ENSP00000417148.1:p.Glu482Ter
ENST00000470026.6:c.4756G>T	ENSP00000419274.2:p.Glu1586Ter
ENST00000471181.6:c.4819G>T	ENSP00000418960.2:p.Glu1607Ter
ENST00000471181.7:c.4819G>T	ENSP00000418960.2:p.Glu1607Ter
ENST00000473961.6:c.4630G>T	ENSP00000420201.2:p.Glu1544Ter
ENST00000476777.6:c.4750G>T	ENSP00000417554.2:p.Glu1584Ter
ENST00000477152.6:c.4678G>T	ENSP00000419988.2:p.Glu1560Ter
ENST00000478531.5:c.1444G>T	ENSP00000420412.1:p.Glu482Ter
ENST00000478531.6:c.1444G>T	ENSP00000420412.2:p.Glu482Ter
ENST00000484087.5:c.1069G>T	ENSP00000419481.1:p.Glu357Ter
ENST00000484087.6:c.1318G>T	ENSP00000419481.2:p.Glu440Ter
ENST00000489037.2:c.4678G>T	ENSP00000420781.2:p.Glu1560Ter
ENST00000491747.6:c.1444G>T	ENSP00000420705.2:p.Glu482Ter
ENST00000493795.5:c.4615G>T	ENSP00000418775.1:p.Glu1539Ter
ENST00000493919.5:c.1306G>T	ENSP00000418819.1:p.Glu436Ter
ENST00000493919.6:c.1306G>T	ENSP00000418819.2:p.Glu436Ter
ENST00000494123.6:c.4756G>T	ENSP00000419103.2:p.Glu1586Ter
ENST00000497488.2:c.3868G>T	ENSP00000418986.2:p.Glu1290Ter
ENST00000586385.5:c.5-7207G>T	ENSP00000465818.1:n.5-7207G>T
ENST00000591534.5:c.229G>T	ENSP00000467329.1:p.Glu77Ter
ENST00000591849.5:c.-98-20968G>T	ENSP00000465347.1:n.-98-20968G>T
ENST00000618469.2:c.4756G>T	ENSP00000478114.2:p.Glu1586Ter
ENST00000634433.2:c.4633G>T	ENSP00000489431.2:p.Glu1545Ter
ENST00000644379.1:c.1143G>T
ENST00000644379.2:c.4822G>T	ENSP00000496570.2:p.Glu1608Ter
ENST00000644555.2:c.1306G>T	ENSP00000494614.2:p.Glu436Ter
ENST00000652672.2:c.4615G>T	ENSP00000498906.2:p.Glu1539Ter
ENST00000700182.1:c.1363G>T	ENSP00000514849.1:p.Glu455Ter