Canonical Allele Identifier: CA10593356

Gene: BRCA1

Linked Data

• dbSNP Id: rs80356972
• MyVariant Identifiers: chr17:g.41242962T>A (hg19) ; chr17:g.43090945T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090945T>A , CM000679.2:g.43090945T>A	GRCh38
NC_000017.10:g.41242962T>A , CM000679.1:g.41242962T>A	GRCh37
NC_000017.9:g.38496488T>A	NCBI36
NG_005905.2:g.127039A>T , LRG_292:g.127039A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4184A>T	ENSP00000417241.2:p.Gln1395Leu
ENST00000470026.6:c.4184A>T	ENSP00000419274.2:p.Gln1395Leu
ENST00000473961.6:c.4058A>T	ENSP00000420201.2:p.Gln1353Leu
ENST00000476777.6:c.4181A>T	ENSP00000417554.2:p.Gln1394Leu
ENST00000477152.6:c.4106A>T	ENSP00000419988.2:p.Gln1369Leu
ENST00000478531.6:c.872A>T	ENSP00000420412.2:p.Gln291Leu
ENST00000489037.2:c.4106A>T	ENSP00000420781.2:p.Gln1369Leu
ENST00000493919.6:c.734A>T	ENSP00000418819.2:p.Gln245Leu
ENST00000494123.6:c.4184A>T	ENSP00000419103.2:p.Gln1395Leu
ENST00000497488.2:c.3296A>T	ENSP00000418986.2:p.Gln1099Leu
ENST00000618469.2:c.4184A>T	ENSP00000478114.2:p.Gln1395Leu
ENST00000634433.2:c.4061A>T	ENSP00000489431.2:p.Gln1354Leu
ENST00000644379.2:c.4184A>T	ENSP00000496570.2:p.Gln1395Leu
ENST00000644555.2:c.734A>T	ENSP00000494614.2:p.Gln245Leu
ENST00000652672.2:c.4043A>T	ENSP00000498906.2:p.Gln1348Leu
ENST00000484087.6:c.752A>T	ENSP00000419481.2:p.Gln251Leu
ENST00000700182.1:c.794A>T	ENSP00000514849.1:p.Gln265Leu
ENST00000357654.9:c.4184A>T MANE Select	ENSP00000350283.3:p.Gln1395Leu
ENST00000471181.7:c.4184A>T	ENSP00000418960.2:p.Gln1395Leu
ENST00000644379.1:c.505A>T
ENST00000352993.7:c.758A>T	ENSP00000312236.5:p.Gln253Leu
ENST00000357654.7:c.4184A>T	ENSP00000350283.3:p.Gln1395Leu
ENST00000461221.5:c.*3967A>T	ENSP00000418548.1:n.*3967A>T
ENST00000461574.1:c.478A>T
ENST00000468300.5:c.875A>T	ENSP00000417148.1:p.Gln292Leu
ENST00000471181.6:c.4184A>T	ENSP00000418960.2:p.Gln1395Leu
ENST00000478531.5:c.872A>T	ENSP00000420412.1:p.Gln291Leu
ENST00000484087.5:c.497A>T	ENSP00000419481.1:p.Gln166Leu
ENST00000487825.5:c.500A>T	ENSP00000418212.1:p.Gln167Leu
ENST00000491747.6:c.875A>T	ENSP00000420705.2:p.Gln292Leu
ENST00000493795.5:c.4043A>T	ENSP00000418775.1:p.Gln1348Leu
ENST00000493919.5:c.734A>T	ENSP00000418819.1:p.Gln245Leu
ENST00000586385.5:c.5-26994A>T	ENSP00000465818.1:n.5-26994A>T
ENST00000591534.5:c.-43-16424A>T	ENSP00000467329.1:n.-43-16424A>T
ENST00000591849.5:c.-99+34326A>T	ENSP00000465347.1:n.-99+34326A>T
NM_007294.3:c.4184A>T , LRG_292t1:c.4184A>T	NP_009225.1:p.Gln1395Leu
NM_007297.3:c.4043A>T	NP_009228.2:p.Gln1348Leu
NM_007298.3:c.875A>T	NP_009229.2:p.Gln292Leu
NM_007299.3:c.875A>T	NP_009230.2:p.Gln292Leu
NM_007300.3:c.4184A>T	NP_009231.2:p.Gln1395Leu
NR_027676.1:n.4320A>T
NM_007294.4:c.4184A>T MANE Select	NP_009225.1:p.Gln1395Leu
NM_007297.4:c.4043A>T	NP_009228.2:p.Gln1348Leu
NM_007299.4:c.875A>T	NP_009230.2:p.Gln292Leu
NM_007300.4:c.4184A>T	NP_009231.2:p.Gln1395Leu
NR_027676.2:n.4361A>T