Canonical Allele Identifier: CA10593230

Gene: BRCA1

Linked Data

• dbSNP Id: rs41293453
• MyVariant Identifiers: chr17:g.41234533T>A (hg19) ; chr17:g.43082516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082516T>A , CM000679.2:g.43082516T>A	GRCh38
NC_000017.10:g.41234533T>A , CM000679.1:g.41234533T>A	GRCh37
NC_000017.9:g.38488059T>A	NCBI36
NG_005905.2:g.135468A>T , LRG_292:g.135468A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4245A>T	ENSP00000417241.2:p.Glu1415Asp
ENST00000470026.6:c.4245A>T	ENSP00000419274.2:p.Glu1415Asp
ENST00000473961.6:c.4119A>T	ENSP00000420201.2:p.Glu1373Asp
ENST00000476777.6:c.4239A>T	ENSP00000417554.2:p.Glu1413Asp
ENST00000477152.6:c.4167A>T	ENSP00000419988.2:p.Glu1389Asp
ENST00000478531.6:c.933A>T	ENSP00000420412.2:p.Glu311Asp
ENST00000489037.2:c.4167A>T	ENSP00000420781.2:p.Glu1389Asp
ENST00000493919.6:c.795A>T	ENSP00000418819.2:p.Glu265Asp
ENST00000494123.6:c.4245A>T	ENSP00000419103.2:p.Glu1415Asp
ENST00000497488.2:c.3357A>T	ENSP00000418986.2:p.Glu1119Asp
ENST00000618469.2:c.4245A>T	ENSP00000478114.2:p.Glu1415Asp
ENST00000634433.2:c.4122A>T	ENSP00000489431.2:p.Glu1374Asp
ENST00000644379.2:c.4245A>T	ENSP00000496570.2:p.Glu1415Asp
ENST00000644555.2:c.795A>T	ENSP00000494614.2:p.Glu265Asp
ENST00000652672.2:c.4104A>T	ENSP00000498906.2:p.Glu1368Asp
ENST00000484087.6:c.810A>T	ENSP00000419481.2:p.Glu270Asp
ENST00000700182.1:c.855A>T	ENSP00000514849.1:p.Glu285Asp
ENST00000357654.9:c.4245A>T MANE Select	ENSP00000350283.3:p.Glu1415Asp
ENST00000471181.7:c.4245A>T	ENSP00000418960.2:p.Glu1415Asp
ENST00000644379.1:c.566A>T
ENST00000352993.7:c.819A>T	ENSP00000312236.5:p.Glu273Asp
ENST00000357654.7:c.4245A>T	ENSP00000350283.3:p.Glu1415Asp
ENST00000461221.5:c.*4028A>T	ENSP00000418548.1:n.*4028A>T
ENST00000461574.1:c.539A>T
ENST00000468300.5:c.936A>T	ENSP00000417148.1:p.Glu312Asp
ENST00000471181.6:c.4245A>T	ENSP00000418960.2:p.Glu1415Asp
ENST00000478531.5:c.933A>T	ENSP00000420412.1:p.Glu311Asp
ENST00000484087.5:c.558A>T	ENSP00000419481.1:p.Glu186Asp
ENST00000487825.5:c.561A>T	ENSP00000418212.1:p.Glu187Asp
ENST00000491747.6:c.936A>T	ENSP00000420705.2:p.Glu312Asp
ENST00000493795.5:c.4104A>T	ENSP00000418775.1:p.Glu1368Asp
ENST00000493919.5:c.795A>T	ENSP00000418819.1:p.Glu265Asp
ENST00000586385.5:c.5-18565A>T	ENSP00000465818.1:n.5-18565A>T
ENST00000591534.5:c.-43-7995A>T	ENSP00000467329.1:n.-43-7995A>T
ENST00000591849.5:c.-98-32326A>T	ENSP00000465347.1:n.-98-32326A>T
ENST00000621897.1:n.139A>T
NM_007294.3:c.4245A>T , LRG_292t1:c.4245A>T	NP_009225.1:p.Glu1415Asp
NM_007297.3:c.4104A>T	NP_009228.2:p.Glu1368Asp
NM_007298.3:c.936A>T	NP_009229.2:p.Glu312Asp
NM_007299.3:c.936A>T	NP_009230.2:p.Glu312Asp
NM_007300.3:c.4245A>T	NP_009231.2:p.Glu1415Asp
NR_027676.1:n.4381A>T
NM_007294.4:c.4245A>T MANE Select	NP_009225.1:p.Glu1415Asp
NM_007297.4:c.4104A>T	NP_009228.2:p.Glu1368Asp
NM_007299.4:c.936A>T	NP_009230.2:p.Glu312Asp
NM_007300.4:c.4245A>T	NP_009231.2:p.Glu1415Asp
NR_027676.2:n.4422A>T