Canonical Allele Identifier: CA10591701

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071002C>T , CM000679.2:g.43071002C>T	GRCh38
NC_000017.10:g.41223019C>T , CM000679.1:g.41223019C>T	GRCh37
NC_000017.9:g.38476545C>T	NCBI36
NG_005905.2:g.146982G>A , LRG_292:g.146982G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4912G>A MANE Select	NP_009225.1:p.Glu1638Lys
ENST00000357654.9:c.4912G>A MANE Select	ENSP00000350283.3:p.Glu1638Lys
NM_007294.3:c.4912G>A , LRG_292t1:c.4912G>A	NP_009225.1:p.Glu1638Lys
NM_007297.3:c.4771G>A	NP_009228.2:p.Glu1591Lys
NM_007297.4:c.4771G>A	NP_009228.2:p.Glu1591Lys
NM_007298.3:c.1600G>A	NP_009229.2:p.Glu534Lys
NM_007299.3:c.1600G>A	NP_009230.2:p.Glu534Lys
NM_007299.4:c.1600G>A	NP_009230.2:p.Glu534Lys
NM_007300.3:c.4975G>A	NP_009231.2:p.Glu1659Lys
NM_007300.4:c.4975G>A	NP_009231.2:p.Glu1659Lys
NR_027676.1:n.5048G>A
NR_027676.2:n.5089G>A
ENST00000352993.7:c.1486G>A	ENSP00000312236.5:p.Glu496Lys
ENST00000357654.7:c.4912G>A	ENSP00000350283.3:p.Glu1638Lys
ENST00000461221.5:c.*4695G>A	ENSP00000418548.1:n.*4695G>A
ENST00000461574.2:c.4909G>A	ENSP00000417241.2:p.Glu1637Lys
ENST00000468300.5:c.1600G>A	ENSP00000417148.1:p.Glu534Lys
ENST00000470026.6:c.4912G>A	ENSP00000419274.2:p.Glu1638Lys
ENST00000471181.6:c.4975G>A	ENSP00000418960.2:p.Glu1659Lys
ENST00000471181.7:c.4975G>A	ENSP00000418960.2:p.Glu1659Lys
ENST00000472490.1:n.65G>A
ENST00000473961.6:c.4786G>A	ENSP00000420201.2:p.Glu1596Lys
ENST00000476777.6:c.4906G>A	ENSP00000417554.2:p.Glu1636Lys
ENST00000477152.6:c.4834G>A	ENSP00000419988.2:p.Glu1612Lys
ENST00000478531.5:c.1600G>A	ENSP00000420412.1:p.Glu534Lys
ENST00000478531.6:c.1600G>A	ENSP00000420412.2:p.Glu534Lys
ENST00000484087.5:c.1225G>A	ENSP00000419481.1:p.Glu409Lys
ENST00000484087.6:c.1474G>A	ENSP00000419481.2:p.Glu492Lys
ENST00000489037.2:c.4834G>A	ENSP00000420781.2:p.Glu1612Lys
ENST00000491747.6:c.1600G>A	ENSP00000420705.2:p.Glu534Lys
ENST00000493795.5:c.4771G>A	ENSP00000418775.1:p.Glu1591Lys
ENST00000493919.5:c.1462G>A	ENSP00000418819.1:p.Glu488Lys
ENST00000493919.6:c.1462G>A	ENSP00000418819.2:p.Glu488Lys
ENST00000494123.6:c.4912G>A	ENSP00000419103.2:p.Glu1638Lys
ENST00000497488.2:c.4024G>A	ENSP00000418986.2:p.Glu1342Lys
ENST00000586385.5:c.5-7051G>A	ENSP00000465818.1:n.5-7051G>A
ENST00000591534.5:c.385G>A	ENSP00000467329.1:p.Glu129Lys
ENST00000591849.5:c.-98-20812G>A	ENSP00000465347.1:n.-98-20812G>A
ENST00000618469.2:c.4912G>A	ENSP00000478114.2:p.Glu1638Lys
ENST00000634433.2:c.4789G>A	ENSP00000489431.2:p.Glu1597Lys
ENST00000644379.1:c.1299G>A
ENST00000644379.2:c.4978G>A	ENSP00000496570.2:p.Glu1660Lys
ENST00000644555.2:c.1462G>A	ENSP00000494614.2:p.Glu488Lys
ENST00000652672.2:c.4771G>A	ENSP00000498906.2:p.Glu1591Lys
ENST00000700182.1:c.1519G>A	ENSP00000514849.1:p.Glu507Lys