Canonical Allele Identifier: CA10599615

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41246330A>T (hg19) ; chr17:g.43094313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094313A>T , CM000679.2:g.43094313A>T	GRCh38
NC_000017.10:g.41246330A>T , CM000679.1:g.41246330A>T	GRCh37
NC_000017.9:g.38499856A>T	NCBI36
NG_005905.2:g.123671T>A , LRG_292:g.123671T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1282T>A
ENST00000461574.2:c.1218T>A	ENSP00000417241.2:p.Asn406Lys
ENST00000470026.6:c.1218T>A	ENSP00000419274.2:p.Asn406Lys
ENST00000473961.6:c.1092T>A	ENSP00000420201.2:p.Asn364Lys
ENST00000476777.6:c.1215T>A	ENSP00000417554.2:p.Asn405Lys
ENST00000477152.6:c.1140T>A	ENSP00000419988.2:p.Asn380Lys
ENST00000478531.6:c.784+431T>A	ENSP00000420412.2:n.784+431T>A
ENST00000489037.2:c.1140T>A	ENSP00000420781.2:p.Asn380Lys
ENST00000493919.6:c.646+431T>A	ENSP00000418819.2:n.646+431T>A
ENST00000494123.6:c.1218T>A	ENSP00000419103.2:p.Asn406Lys
ENST00000497488.2:c.330T>A	ENSP00000418986.2:p.Asn110Lys
ENST00000618469.2:c.1218T>A	ENSP00000478114.2:p.Asn406Lys
ENST00000634433.2:c.1095T>A	ENSP00000489431.2:p.Asn365Lys
ENST00000644379.2:c.1218T>A	ENSP00000496570.2:p.Asn406Lys
ENST00000644555.2:c.646+431T>A	ENSP00000494614.2:n.646+431T>A
ENST00000652672.2:c.1077T>A	ENSP00000498906.2:p.Asn359Lys
ENST00000484087.6:c.664+431T>A	ENSP00000419481.2:n.664+431T>A
ENST00000700182.1:c.706+431T>A	ENSP00000514849.1:n.706+431T>A
ENST00000700183.1:c.*1226T>A	ENSP00000514850.1:n.*1226T>A
ENST00000357654.9:c.1218T>A MANE Select	ENSP00000350283.3:p.Asn406Lys
ENST00000471181.7:c.1218T>A	ENSP00000418960.2:p.Asn406Lys
ENST00000652672.1:c.1077T>A	ENSP00000498906.1:p.Asn359Lys
ENST00000352993.7:c.670+1533T>A	ENSP00000312236.5:n.670+1533T>A
ENST00000354071.7:c.1218T>A	ENSP00000326002.7:p.Asn406Lys
ENST00000357654.7:c.1218T>A	ENSP00000350283.3:p.Asn406Lys
ENST00000412061.3:c.569T>A
ENST00000461221.5:c.*1001T>A	ENSP00000418548.1:n.*1001T>A
ENST00000468300.5:c.787+431T>A	ENSP00000417148.1:n.787+431T>A
ENST00000470026.5:c.1218T>A	ENSP00000419274.1:p.Asn406Lys
ENST00000471181.6:c.1218T>A	ENSP00000418960.2:p.Asn406Lys
ENST00000473961.5:c.815T>A
ENST00000477152.5:c.1140T>A	ENSP00000419988.1:p.Asn380Lys
ENST00000478531.5:c.784+431T>A	ENSP00000420412.1:n.784+431T>A
ENST00000484087.5:c.409+431T>A	ENSP00000419481.1:n.409+431T>A
ENST00000487825.5:c.412+431T>A	ENSP00000418212.1:n.412+431T>A
ENST00000491747.6:c.787+431T>A	ENSP00000420705.2:n.787+431T>A
ENST00000492859.5:c.*1154T>A	ENSP00000420253.1:n.*1154T>A
ENST00000493795.5:c.1077T>A	ENSP00000418775.1:p.Asn359Lys
ENST00000493919.5:c.646+431T>A	ENSP00000418819.1:n.646+431T>A
ENST00000494123.5:c.1218T>A	ENSP00000419103.1:p.Asn406Lys
ENST00000497488.1:c.330T>A	ENSP00000418986.1:p.Asn110Lys
ENST00000586385.5:c.5-30362T>A	ENSP00000465818.1:n.5-30362T>A
ENST00000591534.5:c.-43-19792T>A	ENSP00000467329.1:n.-43-19792T>A
ENST00000591849.5:c.-99+30958T>A	ENSP00000465347.1:n.-99+30958T>A
ENST00000634433.1:c.1095T>A	ENSP00000489431.1:p.Asn365Lys
NM_007294.3:c.1218T>A , LRG_292t1:c.1218T>A	NP_009225.1:p.Asn406Lys
NM_007297.3:c.1077T>A	NP_009228.2:p.Asn359Lys
NM_007298.3:c.787+431T>A	NP_009229.2:n.787+431T>A
NM_007299.3:c.787+431T>A	NP_009230.2:n.787+431T>A
NM_007300.3:c.1218T>A	NP_009231.2:p.Asn406Lys
NR_027676.1:n.1354T>A
NM_007294.4:c.1218T>A MANE Select	NP_009225.1:p.Asn406Lys
NM_007297.4:c.1077T>A	NP_009228.2:p.Asn359Lys
NM_007299.4:c.787+431T>A	NP_009230.2:n.787+431T>A
NM_007300.4:c.1218T>A	NP_009231.2:p.Asn406Lys
NR_027676.2:n.1395T>A