Canonical Allele Identifier: CA10593481

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 440472
• ClinVar RCV Id: RCV000508602 ; RCV002524929
• dbSNP Id: rs1555586200
• MyVariant Identifiers: chr17:g.41243024A>T (hg19) ; chr17:g.43091007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091007A>T , CM000679.2:g.43091007A>T	GRCh38
NC_000017.10:g.41243024A>T , CM000679.1:g.41243024A>T	GRCh37
NC_000017.9:g.38496550A>T	NCBI36
NG_005905.2:g.126977T>A , LRG_292:g.126977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4122T>A	ENSP00000417241.2:p.Ser1374Arg
ENST00000470026.6:c.4122T>A	ENSP00000419274.2:p.Ser1374Arg
ENST00000473961.6:c.3996T>A	ENSP00000420201.2:p.Ser1332Arg
ENST00000476777.6:c.4119T>A	ENSP00000417554.2:p.Ser1373Arg
ENST00000477152.6:c.4044T>A	ENSP00000419988.2:p.Ser1348Arg
ENST00000478531.6:c.810T>A	ENSP00000420412.2:p.Ser270Arg
ENST00000489037.2:c.4044T>A	ENSP00000420781.2:p.Ser1348Arg
ENST00000493919.6:c.672T>A	ENSP00000418819.2:p.Ser224Arg
ENST00000494123.6:c.4122T>A	ENSP00000419103.2:p.Ser1374Arg
ENST00000497488.2:c.3234T>A	ENSP00000418986.2:p.Ser1078Arg
ENST00000618469.2:c.4122T>A	ENSP00000478114.2:p.Ser1374Arg
ENST00000634433.2:c.3999T>A	ENSP00000489431.2:p.Ser1333Arg
ENST00000644379.2:c.4122T>A	ENSP00000496570.2:p.Ser1374Arg
ENST00000644555.2:c.672T>A	ENSP00000494614.2:p.Ser224Arg
ENST00000652672.2:c.3981T>A	ENSP00000498906.2:p.Ser1327Arg
ENST00000484087.6:c.690T>A	ENSP00000419481.2:p.Ser230Arg
ENST00000700182.1:c.732T>A	ENSP00000514849.1:p.Ser244Arg
ENST00000357654.9:c.4122T>A MANE Select	ENSP00000350283.3:p.Ser1374Arg
ENST00000471181.7:c.4122T>A	ENSP00000418960.2:p.Ser1374Arg
ENST00000644379.1:c.443T>A
ENST00000352993.7:c.696T>A	ENSP00000312236.5:p.Ser232Arg
ENST00000357654.7:c.4122T>A	ENSP00000350283.3:p.Ser1374Arg
ENST00000461221.5:c.*3905T>A	ENSP00000418548.1:n.*3905T>A
ENST00000461574.1:c.416T>A
ENST00000468300.5:c.813T>A	ENSP00000417148.1:p.Ser271Arg
ENST00000471181.6:c.4122T>A	ENSP00000418960.2:p.Ser1374Arg
ENST00000478531.5:c.810T>A	ENSP00000420412.1:p.Ser270Arg
ENST00000484087.5:c.435T>A	ENSP00000419481.1:p.Ser145Arg
ENST00000487825.5:c.438T>A	ENSP00000418212.1:p.Ser146Arg
ENST00000491747.6:c.813T>A	ENSP00000420705.2:p.Ser271Arg
ENST00000493795.5:c.3981T>A	ENSP00000418775.1:p.Ser1327Arg
ENST00000493919.5:c.672T>A	ENSP00000418819.1:p.Ser224Arg
ENST00000586385.5:c.5-27056T>A	ENSP00000465818.1:n.5-27056T>A
ENST00000591534.5:c.-43-16486T>A	ENSP00000467329.1:n.-43-16486T>A
ENST00000591849.5:c.-99+34264T>A	ENSP00000465347.1:n.-99+34264T>A
NM_007294.3:c.4122T>A , LRG_292t1:c.4122T>A	NP_009225.1:p.Ser1374Arg
NM_007297.3:c.3981T>A	NP_009228.2:p.Ser1327Arg
NM_007298.3:c.813T>A	NP_009229.2:p.Ser271Arg
NM_007299.3:c.813T>A	NP_009230.2:p.Ser271Arg
NM_007300.3:c.4122T>A	NP_009231.2:p.Ser1374Arg
NR_027676.1:n.4258T>A
NM_007294.4:c.4122T>A MANE Select	NP_009225.1:p.Ser1374Arg
NM_007297.4:c.3981T>A	NP_009228.2:p.Ser1327Arg
NM_007299.4:c.813T>A	NP_009230.2:p.Ser271Arg
NM_007300.4:c.4122T>A	NP_009231.2:p.Ser1374Arg
NR_027676.2:n.4299T>A