Canonical Allele Identifier: CA10593465

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090999C>T , CM000679.2:g.43090999C>T	GRCh38
NC_000017.10:g.41243016C>T , CM000679.1:g.41243016C>T	GRCh37
NC_000017.9:g.38496542C>T	NCBI36
NG_005905.2:g.126985G>A , LRG_292:g.126985G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4130G>A MANE Select	NP_009225.1:p.Ser1377Asn
ENST00000357654.9:c.4130G>A MANE Select	ENSP00000350283.3:p.Ser1377Asn
NM_007294.3:c.4130G>A , LRG_292t1:c.4130G>A	NP_009225.1:p.Ser1377Asn
NM_007297.3:c.3989G>A	NP_009228.2:p.Ser1330Asn
NM_007297.4:c.3989G>A	NP_009228.2:p.Ser1330Asn
NM_007298.3:c.821G>A	NP_009229.2:p.Ser274Asn
NM_007299.3:c.821G>A	NP_009230.2:p.Ser274Asn
NM_007299.4:c.821G>A	NP_009230.2:p.Ser274Asn
NM_007300.3:c.4130G>A	NP_009231.2:p.Ser1377Asn
NM_007300.4:c.4130G>A	NP_009231.2:p.Ser1377Asn
NR_027676.1:n.4266G>A
NR_027676.2:n.4307G>A
ENST00000352993.7:c.704G>A	ENSP00000312236.5:p.Ser235Asn
ENST00000357654.7:c.4130G>A	ENSP00000350283.3:p.Ser1377Asn
ENST00000461221.5:c.*3913G>A	ENSP00000418548.1:n.*3913G>A
ENST00000461574.1:c.424G>A
ENST00000461574.2:c.4130G>A	ENSP00000417241.2:p.Ser1377Asn
ENST00000468300.5:c.821G>A	ENSP00000417148.1:p.Ser274Asn
ENST00000470026.6:c.4130G>A	ENSP00000419274.2:p.Ser1377Asn
ENST00000471181.6:c.4130G>A	ENSP00000418960.2:p.Ser1377Asn
ENST00000471181.7:c.4130G>A	ENSP00000418960.2:p.Ser1377Asn
ENST00000473961.6:c.4004G>A	ENSP00000420201.2:p.Ser1335Asn
ENST00000476777.6:c.4127G>A	ENSP00000417554.2:p.Ser1376Asn
ENST00000477152.6:c.4052G>A	ENSP00000419988.2:p.Ser1351Asn
ENST00000478531.5:c.818G>A	ENSP00000420412.1:p.Ser273Asn
ENST00000478531.6:c.818G>A	ENSP00000420412.2:p.Ser273Asn
ENST00000484087.5:c.443G>A	ENSP00000419481.1:p.Ser148Asn
ENST00000484087.6:c.698G>A	ENSP00000419481.2:p.Ser233Asn
ENST00000487825.5:c.446G>A	ENSP00000418212.1:p.Ser149Asn
ENST00000489037.2:c.4052G>A	ENSP00000420781.2:p.Ser1351Asn
ENST00000491747.6:c.821G>A	ENSP00000420705.2:p.Ser274Asn
ENST00000493795.5:c.3989G>A	ENSP00000418775.1:p.Ser1330Asn
ENST00000493919.5:c.680G>A	ENSP00000418819.1:p.Ser227Asn
ENST00000493919.6:c.680G>A	ENSP00000418819.2:p.Ser227Asn
ENST00000494123.6:c.4130G>A	ENSP00000419103.2:p.Ser1377Asn
ENST00000497488.2:c.3242G>A	ENSP00000418986.2:p.Ser1081Asn
ENST00000586385.5:c.5-27048G>A	ENSP00000465818.1:n.5-27048G>A
ENST00000591534.5:c.-43-16478G>A	ENSP00000467329.1:n.-43-16478G>A
ENST00000591849.5:c.-99+34272G>A	ENSP00000465347.1:n.-99+34272G>A
ENST00000618469.2:c.4130G>A	ENSP00000478114.2:p.Ser1377Asn
ENST00000634433.2:c.4007G>A	ENSP00000489431.2:p.Ser1336Asn
ENST00000644379.1:c.451G>A
ENST00000644379.2:c.4130G>A	ENSP00000496570.2:p.Ser1377Asn
ENST00000644555.2:c.680G>A	ENSP00000494614.2:p.Ser227Asn
ENST00000652672.2:c.3989G>A	ENSP00000498906.2:p.Ser1330Asn
ENST00000700182.1:c.740G>A	ENSP00000514849.1:p.Ser247Asn