Canonical Allele Identifier: CA2260769502
Community Standard Title: NM_007294.4(BRCA1):c.5139A= (p.Val1713=)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063887T= , CM000679.2:g.43063887T= GRCh38
NC_000017.10:g.41215904T= , CM000679.1:g.41215904T= GRCh37
NC_000017.9:g.38469430T= NCBI36
NG_005905.2:g.154097A= , LRG_292:g.154097A=

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5139A= MANE Select NP_009225.1:p.Val1713=
ENST00000357654.9:c.5139A= MANE Select ENSP00000350283.3:p.Val1713=
NM_007294.3:c.5139A= , LRG_292t1:c.5139A= NP_009225.1:p.Val1713=
NM_007297.3:c.4998A= NP_009228.2:p.Val1666=
NM_007297.4:c.4998A= NP_009228.2:p.Val1666=
NM_007298.3:c.1827A= NP_009229.2:p.Val609=
NM_007299.3:c.1827A= NP_009230.2:p.Val609=
NM_007299.4:c.1827A= NP_009230.2:p.Val609=
NM_007300.3:c.5202A= NP_009231.2:p.Val1734=
NM_007300.4:c.5202A= NP_009231.2:p.Val1734=
NR_027676.1:n.5275A=
NR_027676.2:n.5316A=
ENST00000352993.7:c.1713A= ENSP00000312236.5:p.Val571=
ENST00000357654.7:c.5139A= ENSP00000350283.3:p.Val1713=
ENST00000461221.5:c.*4922A= ENSP00000418548.1:n.*4922A=
ENST00000461574.2:c.5136A= ENSP00000417241.2:p.Val1712=
ENST00000468300.5:c.1827A= ENSP00000417148.1:p.Val609=
ENST00000470026.6:c.5139A= ENSP00000419274.2:p.Val1713=
ENST00000471181.6:c.5202A= ENSP00000418960.2:p.Val1734=
ENST00000471181.7:c.5202A= ENSP00000418960.2:p.Val1734=
ENST00000473961.6:c.5013A= ENSP00000420201.2:p.Val1671=
ENST00000476777.6:c.5133A= ENSP00000417554.2:p.Val1711=
ENST00000477152.6:c.5061A= ENSP00000419988.2:p.Val1687=
ENST00000478531.5:c.1827A= ENSP00000420412.1:p.Val609=
ENST00000478531.6:c.1827A= ENSP00000420412.2:p.Val609=
ENST00000484087.5:c.1452A= ENSP00000419481.1:p.Val484=
ENST00000484087.6:c.1701A= ENSP00000419481.2:p.Val567=
ENST00000489037.2:c.5061A= ENSP00000420781.2:p.Val1687=
ENST00000491747.6:c.1827A= ENSP00000420705.2:p.Val609=
ENST00000493795.5:c.4998A= ENSP00000418775.1:p.Val1666=
ENST00000493919.5:c.1689A= ENSP00000418819.1:p.Val563=
ENST00000493919.6:c.1689A= ENSP00000418819.2:p.Val563=
ENST00000494123.6:c.5139A= ENSP00000419103.2:p.Val1713=
ENST00000497488.2:c.4251A= ENSP00000418986.2:p.Val1417=
ENST00000586385.5:c.69A= ENSP00000465818.1:p.Val23=
ENST00000591534.5:c.612A= ENSP00000467329.1:p.Val204=
ENST00000591849.5:c.-98-13697A= ENSP00000465347.1:n.-98-13697A=
ENST00000618469.2:c.5139A= ENSP00000478114.2:p.Val1713=
ENST00000634433.2:c.5016A= ENSP00000489431.2:p.Val1672=
ENST00000644379.1:c.1526A=
ENST00000644379.2:c.5205A= ENSP00000496570.2:p.Val1735=
ENST00000644555.2:c.1689A= ENSP00000494614.2:p.Val563=
ENST00000652672.2:c.4998A= ENSP00000498906.2:p.Val1666=