Canonical Allele Identifier: CA10593488

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43091010-C-A
• MyVariant Identifiers: chr17:g.41243027C>A (hg19) ; chr17:g.43091010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091010C>A , CM000679.2:g.43091010C>A	GRCh38
NC_000017.10:g.41243027C>A , CM000679.1:g.41243027C>A	GRCh37
NC_000017.9:g.38496553C>A	NCBI36
NG_005905.2:g.126974G>T , LRG_292:g.126974G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4119G>T	ENSP00000417241.2:p.Glu1373Asp
ENST00000470026.6:c.4119G>T	ENSP00000419274.2:p.Glu1373Asp
ENST00000473961.6:c.3993G>T	ENSP00000420201.2:p.Glu1331Asp
ENST00000476777.6:c.4116G>T	ENSP00000417554.2:p.Glu1372Asp
ENST00000477152.6:c.4041G>T	ENSP00000419988.2:p.Glu1347Asp
ENST00000478531.6:c.807G>T	ENSP00000420412.2:p.Glu269Asp
ENST00000489037.2:c.4041G>T	ENSP00000420781.2:p.Glu1347Asp
ENST00000493919.6:c.669G>T	ENSP00000418819.2:p.Glu223Asp
ENST00000494123.6:c.4119G>T	ENSP00000419103.2:p.Glu1373Asp
ENST00000497488.2:c.3231G>T	ENSP00000418986.2:p.Glu1077Asp
ENST00000618469.2:c.4119G>T	ENSP00000478114.2:p.Glu1373Asp
ENST00000634433.2:c.3996G>T	ENSP00000489431.2:p.Glu1332Asp
ENST00000644379.2:c.4119G>T	ENSP00000496570.2:p.Glu1373Asp
ENST00000644555.2:c.669G>T	ENSP00000494614.2:p.Glu223Asp
ENST00000652672.2:c.3978G>T	ENSP00000498906.2:p.Glu1326Asp
ENST00000484087.6:c.687G>T	ENSP00000419481.2:p.Glu229Asp
ENST00000700182.1:c.729G>T	ENSP00000514849.1:p.Glu243Asp
ENST00000357654.9:c.4119G>T MANE Select	ENSP00000350283.3:p.Glu1373Asp
ENST00000471181.7:c.4119G>T	ENSP00000418960.2:p.Glu1373Asp
ENST00000644379.1:c.440G>T
ENST00000352993.7:c.693G>T	ENSP00000312236.5:p.Glu231Asp
ENST00000357654.7:c.4119G>T	ENSP00000350283.3:p.Glu1373Asp
ENST00000461221.5:c.*3902G>T	ENSP00000418548.1:n.*3902G>T
ENST00000461574.1:c.413G>T
ENST00000468300.5:c.810G>T	ENSP00000417148.1:p.Glu270Asp
ENST00000471181.6:c.4119G>T	ENSP00000418960.2:p.Glu1373Asp
ENST00000478531.5:c.807G>T	ENSP00000420412.1:p.Glu269Asp
ENST00000484087.5:c.432G>T	ENSP00000419481.1:p.Glu144Asp
ENST00000487825.5:c.435G>T	ENSP00000418212.1:p.Glu145Asp
ENST00000491747.6:c.810G>T	ENSP00000420705.2:p.Glu270Asp
ENST00000493795.5:c.3978G>T	ENSP00000418775.1:p.Glu1326Asp
ENST00000493919.5:c.669G>T	ENSP00000418819.1:p.Glu223Asp
ENST00000586385.5:c.5-27059G>T	ENSP00000465818.1:n.5-27059G>T
ENST00000591534.5:c.-43-16489G>T	ENSP00000467329.1:n.-43-16489G>T
ENST00000591849.5:c.-99+34261G>T	ENSP00000465347.1:n.-99+34261G>T
NM_007294.3:c.4119G>T , LRG_292t1:c.4119G>T	NP_009225.1:p.Glu1373Asp
NM_007297.3:c.3978G>T	NP_009228.2:p.Glu1326Asp
NM_007298.3:c.810G>T	NP_009229.2:p.Glu270Asp
NM_007299.3:c.810G>T	NP_009230.2:p.Glu270Asp
NM_007300.3:c.4119G>T	NP_009231.2:p.Glu1373Asp
NR_027676.1:n.4255G>T
NM_007294.4:c.4119G>T MANE Select	NP_009225.1:p.Glu1373Asp
NM_007297.4:c.3978G>T	NP_009228.2:p.Glu1326Asp
NM_007299.4:c.810G>T	NP_009230.2:p.Glu270Asp
NM_007300.4:c.4119G>T	NP_009231.2:p.Glu1373Asp
NR_027676.2:n.4296G>T