Canonical Allele Identifier: CA10591186

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063347T>C , CM000679.2:g.43063347T>C	GRCh38
NC_000017.10:g.41215364T>C , CM000679.1:g.41215364T>C	GRCh37
NC_000017.9:g.38468890T>C	NCBI36
NG_005905.2:g.154637A>G , LRG_292:g.154637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5176A>G	ENSP00000417241.2:p.Lys1726Glu
ENST00000470026.6:c.5179A>G	ENSP00000419274.2:p.Lys1727Glu
ENST00000473961.6:c.5053A>G	ENSP00000420201.2:p.Lys1685Glu
ENST00000476777.6:c.5173A>G	ENSP00000417554.2:p.Lys1725Glu
ENST00000477152.6:c.5101A>G	ENSP00000419988.2:p.Lys1701Glu
ENST00000478531.6:c.1867A>G	ENSP00000420412.2:p.Lys623Glu
ENST00000489037.2:c.5101A>G	ENSP00000420781.2:p.Lys1701Glu
ENST00000493919.6:c.1729A>G	ENSP00000418819.2:p.Lys577Glu
ENST00000494123.6:c.5179A>G	ENSP00000419103.2:p.Lys1727Glu
ENST00000497488.2:c.4291A>G	ENSP00000418986.2:p.Lys1431Glu
ENST00000618469.2:c.5179A>G	ENSP00000478114.2:p.Lys1727Glu
ENST00000634433.2:c.5056A>G	ENSP00000489431.2:p.Lys1686Glu
ENST00000644379.2:c.5245A>G	ENSP00000496570.2:p.Lys1749Glu
ENST00000644555.2:c.1729A>G	ENSP00000494614.2:p.Lys577Glu
ENST00000652672.2:c.5038A>G	ENSP00000498906.2:p.Lys1680Glu
ENST00000484087.6:c.1741A>G	ENSP00000419481.2:p.Lys581Glu
ENST00000357654.9:c.5179A>G MANE Select	ENSP00000350283.3:p.Lys1727Glu
ENST00000471181.7:c.5242A>G	ENSP00000418960.2:p.Lys1748Glu
ENST00000644379.1:c.1566A>G
ENST00000352993.7:c.1753A>G	ENSP00000312236.5:p.Lys585Glu
ENST00000357654.7:c.5179A>G	ENSP00000350283.3:p.Lys1727Glu
ENST00000461221.5:c.*4962A>G	ENSP00000418548.1:n.*4962A>G
ENST00000468300.5:c.1867A>G	ENSP00000417148.1:p.Lys623Glu
ENST00000471181.6:c.5242A>G	ENSP00000418960.2:p.Lys1748Glu
ENST00000478531.5:c.1867A>G	ENSP00000420412.1:p.Lys623Glu
ENST00000484087.5:c.1492A>G	ENSP00000419481.1:p.Lys498Glu
ENST00000491747.6:c.1867A>G	ENSP00000420705.2:p.Lys623Glu
ENST00000493795.5:c.5038A>G	ENSP00000418775.1:p.Lys1680Glu
ENST00000586385.5:c.109A>G	ENSP00000465818.1:p.Lys37Glu
ENST00000591534.5:c.652A>G	ENSP00000467329.1:p.Lys218Glu
ENST00000591849.5:c.-98-13157A>G	ENSP00000465347.1:n.-98-13157A>G
NM_007294.3:c.5179A>G , LRG_292t1:c.5179A>G	NP_009225.1:p.Lys1727Glu
NM_007297.3:c.5038A>G	NP_009228.2:p.Lys1680Glu
NM_007298.3:c.1867A>G	NP_009229.2:p.Lys623Glu
NM_007299.3:c.1867A>G	NP_009230.2:p.Lys623Glu
NM_007300.3:c.5242A>G	NP_009231.2:p.Lys1748Glu
NR_027676.1:n.5315A>G
NM_007294.4:c.5179A>G MANE Select	NP_009225.1:p.Lys1727Glu
NM_007297.4:c.5038A>G	NP_009228.2:p.Lys1680Glu
NM_007299.4:c.1867A>G	NP_009230.2:p.Lys623Glu
NM_007300.4:c.5242A>G	NP_009231.2:p.Lys1748Glu
NR_027676.2:n.5356A>G