Canonical Allele Identifier: CA500143292

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049145C>T , CM000679.2:g.43049145C>T	GRCh38
NC_000017.10:g.41201162C>T , CM000679.1:g.41201162C>T	GRCh37
NC_000017.9:g.38454688C>T	NCBI36
NG_005905.2:g.168839G>A , LRG_292:g.168839G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5382G>A MANE Select	NP_009225.1:p.Glu1794=
ENST00000357654.9:c.5382G>A MANE Select	ENSP00000350283.3:p.Glu1794=
NM_007294.3:c.5382G>A , LRG_292t1:c.5382G>A	NP_009225.1:p.Glu1794=
NM_007297.3:c.5241G>A	NP_009228.2:p.Glu1747=
NM_007297.4:c.5241G>A	NP_009228.2:p.Glu1747=
NM_007298.3:c.2070G>A	NP_009229.2:p.Glu690=
NM_007299.3:c.2021-1442G>A	NP_009230.2:n.2021-1442G>A
NM_007299.4:c.2021-1442G>A	NP_009230.2:n.2021-1442G>A
NM_007300.3:c.5445G>A	NP_009231.2:p.Glu1815=
NM_007300.4:c.5445G>A	NP_009231.2:p.Glu1815=
NR_027676.1:n.5518G>A
NR_027676.2:n.5559G>A
ENST00000352993.7:c.1956G>A	ENSP00000312236.5:p.Glu652=
ENST00000357654.7:c.5382G>A	ENSP00000350283.3:p.Glu1794=
ENST00000461221.5:c.*5165G>A	ENSP00000418548.1:n.*5165G>A
ENST00000461574.2:c.5379G>A	ENSP00000417241.2:p.Glu1793=
ENST00000468300.5:c.2021-1442G>A	ENSP00000417148.1:n.2021-1442G>A
ENST00000470026.6:c.5382G>A	ENSP00000419274.2:p.Glu1794=
ENST00000471181.6:c.5445G>A	ENSP00000418960.2:p.Glu1815=
ENST00000471181.7:c.5445G>A	ENSP00000418960.2:p.Glu1815=
ENST00000473961.6:c.5256G>A	ENSP00000420201.2:p.Glu1752=
ENST00000476777.6:c.5376G>A	ENSP00000417554.2:p.Glu1792=
ENST00000477152.6:c.5304G>A	ENSP00000419988.2:p.Glu1768=
ENST00000478531.6:c.2070G>A	ENSP00000420412.2:p.Glu690=
ENST00000484087.6:c.1944G>A	ENSP00000419481.2:p.Glu648=
ENST00000489037.2:c.5304G>A	ENSP00000420781.2:p.Glu1768=
ENST00000491747.6:c.2070G>A	ENSP00000420705.2:p.Glu690=
ENST00000493795.5:c.5241G>A	ENSP00000418775.1:p.Glu1747=
ENST00000493919.6:c.1932G>A	ENSP00000418819.2:p.Glu644=
ENST00000494123.6:c.5382G>A	ENSP00000419103.2:p.Glu1794=
ENST00000497488.2:c.4494G>A	ENSP00000418986.2:p.Glu1498=
ENST00000586385.5:c.312G>A	ENSP00000465818.1:p.Glu104=
ENST00000591534.5:c.855G>A	ENSP00000467329.1:p.Glu285=
ENST00000591849.5:c.81G>A	ENSP00000465347.1:p.Glu27=
ENST00000618469.2:c.5382G>A	ENSP00000478114.2:p.Glu1794=
ENST00000634433.2:c.5259G>A	ENSP00000489431.2:p.Glu1753=
ENST00000644379.1:c.1769G>A
ENST00000644379.2:c.5448G>A	ENSP00000496570.2:p.Glu1816=
ENST00000644555.2:c.1932G>A	ENSP00000494614.2:p.Glu644=
ENST00000652672.2:c.5241G>A	ENSP00000498906.2:p.Glu1747=
ENST00000700081.1:n.1265G>A