Canonical Allele Identifier: CA500146157

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063893T>C , CM000679.2:g.43063893T>C	GRCh38
NC_000017.10:g.41215910T>C , CM000679.1:g.41215910T>C	GRCh37
NC_000017.9:g.38469436T>C	NCBI36
NG_005905.2:g.154091A>G , LRG_292:g.154091A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5133A>G MANE Select	NP_009225.1:p.Lys1711=
ENST00000357654.9:c.5133A>G MANE Select	ENSP00000350283.3:p.Lys1711=
NM_007294.3:c.5133A>G , LRG_292t1:c.5133A>G	NP_009225.1:p.Lys1711=
NM_007297.3:c.4992A>G	NP_009228.2:p.Lys1664=
NM_007297.4:c.4992A>G	NP_009228.2:p.Lys1664=
NM_007298.3:c.1821A>G	NP_009229.2:p.Lys607=
NM_007299.3:c.1821A>G	NP_009230.2:p.Lys607=
NM_007299.4:c.1821A>G	NP_009230.2:p.Lys607=
NM_007300.3:c.5196A>G	NP_009231.2:p.Lys1732=
NM_007300.4:c.5196A>G	NP_009231.2:p.Lys1732=
NR_027676.1:n.5269A>G
NR_027676.2:n.5310A>G
ENST00000352993.7:c.1707A>G	ENSP00000312236.5:p.Lys569=
ENST00000357654.7:c.5133A>G	ENSP00000350283.3:p.Lys1711=
ENST00000461221.5:c.*4916A>G	ENSP00000418548.1:n.*4916A>G
ENST00000461574.2:c.5130A>G	ENSP00000417241.2:p.Lys1710=
ENST00000468300.5:c.1821A>G	ENSP00000417148.1:p.Lys607=
ENST00000470026.6:c.5133A>G	ENSP00000419274.2:p.Lys1711=
ENST00000471181.6:c.5196A>G	ENSP00000418960.2:p.Lys1732=
ENST00000471181.7:c.5196A>G	ENSP00000418960.2:p.Lys1732=
ENST00000473961.6:c.5007A>G	ENSP00000420201.2:p.Lys1669=
ENST00000476777.6:c.5127A>G	ENSP00000417554.2:p.Lys1709=
ENST00000477152.6:c.5055A>G	ENSP00000419988.2:p.Lys1685=
ENST00000478531.5:c.1821A>G	ENSP00000420412.1:p.Lys607=
ENST00000478531.6:c.1821A>G	ENSP00000420412.2:p.Lys607=
ENST00000484087.5:c.1446A>G	ENSP00000419481.1:p.Lys482=
ENST00000484087.6:c.1695A>G	ENSP00000419481.2:p.Lys565=
ENST00000489037.2:c.5055A>G	ENSP00000420781.2:p.Lys1685=
ENST00000491747.6:c.1821A>G	ENSP00000420705.2:p.Lys607=
ENST00000493795.5:c.4992A>G	ENSP00000418775.1:p.Lys1664=
ENST00000493919.5:c.1683A>G	ENSP00000418819.1:p.Lys561=
ENST00000493919.6:c.1683A>G	ENSP00000418819.2:p.Lys561=
ENST00000494123.6:c.5133A>G	ENSP00000419103.2:p.Lys1711=
ENST00000497488.2:c.4245A>G	ENSP00000418986.2:p.Lys1415=
ENST00000586385.5:c.63A>G	ENSP00000465818.1:p.Lys21=
ENST00000591534.5:c.606A>G	ENSP00000467329.1:p.Lys202=
ENST00000591849.5:c.-98-13703A>G	ENSP00000465347.1:n.-98-13703A>G
ENST00000618469.2:c.5133A>G	ENSP00000478114.2:p.Lys1711=
ENST00000634433.2:c.5010A>G	ENSP00000489431.2:p.Lys1670=
ENST00000644379.1:c.1520A>G
ENST00000644379.2:c.5199A>G	ENSP00000496570.2:p.Lys1733=
ENST00000644555.2:c.1683A>G	ENSP00000494614.2:p.Lys561=
ENST00000652672.2:c.4992A>G	ENSP00000498906.2:p.Lys1664=