Canonical Allele Identifier: CA003729

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045694G>C , CM000679.2:g.43045694G>C	GRCh38
NC_000017.10:g.41197711G>C , CM000679.1:g.41197711G>C	GRCh37
NC_000017.9:g.38451237G>C	NCBI36
NG_005905.2:g.172290C>G , LRG_292:g.172290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5573C>G	ENSP00000417241.2:p.Pro1858Arg
ENST00000470026.6:c.5576C>G	ENSP00000419274.2:p.Pro1859Arg
ENST00000473961.6:c.5450C>G	ENSP00000420201.2:p.Pro1817Arg
ENST00000476777.6:c.5570C>G	ENSP00000417554.2:p.Pro1857Arg
ENST00000477152.6:c.5498C>G	ENSP00000419988.2:p.Pro1833Arg
ENST00000478531.6:c.2264C>G	ENSP00000420412.2:p.Pro755Arg
ENST00000489037.2:c.5498C>G	ENSP00000420781.2:p.Pro1833Arg
ENST00000493919.6:c.2126C>G	ENSP00000418819.2:p.Pro709Arg
ENST00000494123.6:c.5576C>G	ENSP00000419103.2:p.Pro1859Arg
ENST00000497488.2:c.4688C>G	ENSP00000418986.2:p.Pro1563Arg
ENST00000618469.2:c.5576C>G	ENSP00000478114.2:p.Pro1859Arg
ENST00000634433.2:c.5453C>G	ENSP00000489431.2:p.Pro1818Arg
ENST00000644379.2:c.5642C>G	ENSP00000496570.2:p.Pro1881Arg
ENST00000644555.2:c.2126C>G	ENSP00000494614.2:p.Pro709Arg
ENST00000652672.2:c.5435C>G	ENSP00000498906.2:p.Pro1812Arg
ENST00000484087.6:c.2138C>G	ENSP00000419481.2:p.Pro713Arg
ENST00000700081.1:n.1459C>G
ENST00000700082.1:n.940C>G
ENST00000357654.9:c.5576C>G MANE Select	ENSP00000350283.3:p.Pro1859Arg
ENST00000471181.7:c.5639C>G	ENSP00000418960.2:p.Pro1880Arg
ENST00000644379.1:c.1963C>G
ENST00000352993.7:c.2150C>G	ENSP00000312236.5:p.Pro717Arg
ENST00000357654.7:c.5576C>G	ENSP00000350283.3:p.Pro1859Arg
ENST00000461221.5:c.*5359C>G	ENSP00000418548.1:n.*5359C>G
ENST00000468300.5:c.*90C>G	ENSP00000417148.1:n.*90C>G
ENST00000471181.6:c.5639C>G	ENSP00000418960.2:p.Pro1880Arg
ENST00000491747.6:c.2264C>G	ENSP00000420705.2:p.Pro755Arg
ENST00000493795.5:c.5435C>G	ENSP00000418775.1:p.Pro1812Arg
ENST00000586385.5:c.506C>G	ENSP00000465818.1:p.Pro169Arg
ENST00000591534.5:c.1049C>G	ENSP00000467329.1:p.Pro350Arg
ENST00000591849.5:c.275C>G	ENSP00000465347.1:p.Pro92Arg
NM_007294.3:c.5576C>G , LRG_292t1:c.5576C>G	NP_009225.1:p.Pro1859Arg
NM_007297.3:c.5435C>G	NP_009228.2:p.Pro1812Arg
NM_007298.3:c.2264C>G	NP_009229.2:p.Pro755Arg
NM_007299.3:c.*90C>G	NP_009230.2:n.*90C>G
NM_007300.3:c.5639C>G	NP_009231.2:p.Pro1880Arg
NR_027676.1:n.5712C>G
NM_007294.4:c.5576C>G MANE Select	NP_009225.1:p.Pro1859Arg
NM_007297.4:c.5435C>G	NP_009228.2:p.Pro1812Arg
NM_007299.4:c.*90C>G	NP_009230.2:n.*90C>G
NM_007300.4:c.5639C>G	NP_009231.2:p.Pro1880Arg
NR_027676.2:n.5753C>G