Canonical Allele Identifier: CA10591040

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057072T>C , CM000679.2:g.43057072T>C	GRCh38
NC_000017.10:g.41209089T>C , CM000679.1:g.41209089T>C	GRCh37
NC_000017.9:g.38462615T>C	NCBI36
NG_005905.2:g.160912A>G , LRG_292:g.160912A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5257A>G MANE Select	NP_009225.1:p.Arg1753Gly
ENST00000357654.9:c.5257A>G MANE Select	ENSP00000350283.3:p.Arg1753Gly
NM_007294.3:c.5257A>G , LRG_292t1:c.5257A>G	NP_009225.1:p.Arg1753Gly
NM_007297.3:c.5116A>G	NP_009228.2:p.Arg1706Gly
NM_007297.4:c.5116A>G	NP_009228.2:p.Arg1706Gly
NM_007298.3:c.1945A>G	NP_009229.2:p.Arg649Gly
NM_007299.3:c.1945A>G	NP_009230.2:p.Arg649Gly
NM_007299.4:c.1945A>G	NP_009230.2:p.Arg649Gly
NM_007300.3:c.5320A>G	NP_009231.2:p.Arg1774Gly
NM_007300.4:c.5320A>G	NP_009231.2:p.Arg1774Gly
NR_027676.1:n.5393A>G
NR_027676.2:n.5434A>G
ENST00000352993.7:c.1831A>G	ENSP00000312236.5:p.Arg611Gly
ENST00000357654.7:c.5257A>G	ENSP00000350283.3:p.Arg1753Gly
ENST00000461221.5:c.*5040A>G	ENSP00000418548.1:n.*5040A>G
ENST00000461574.2:c.5254A>G	ENSP00000417241.2:p.Arg1752Gly
ENST00000468300.5:c.1945A>G	ENSP00000417148.1:p.Arg649Gly
ENST00000470026.6:c.5257A>G	ENSP00000419274.2:p.Arg1753Gly
ENST00000471181.6:c.5320A>G	ENSP00000418960.2:p.Arg1774Gly
ENST00000471181.7:c.5320A>G	ENSP00000418960.2:p.Arg1774Gly
ENST00000473961.6:c.5131A>G	ENSP00000420201.2:p.Arg1711Gly
ENST00000476777.6:c.5251A>G	ENSP00000417554.2:p.Arg1751Gly
ENST00000477152.6:c.5179A>G	ENSP00000419988.2:p.Arg1727Gly
ENST00000478531.6:c.1945A>G	ENSP00000420412.2:p.Arg649Gly
ENST00000484087.6:c.1819A>G	ENSP00000419481.2:p.Arg607Gly
ENST00000489037.2:c.5179A>G	ENSP00000420781.2:p.Arg1727Gly
ENST00000491747.6:c.1945A>G	ENSP00000420705.2:p.Arg649Gly
ENST00000493795.5:c.5116A>G	ENSP00000418775.1:p.Arg1706Gly
ENST00000493919.6:c.1807A>G	ENSP00000418819.2:p.Arg603Gly
ENST00000494123.6:c.5257A>G	ENSP00000419103.2:p.Arg1753Gly
ENST00000497488.2:c.4369A>G	ENSP00000418986.2:p.Arg1457Gly
ENST00000586385.5:c.187A>G	ENSP00000465818.1:p.Arg63Gly
ENST00000591534.5:c.730A>G	ENSP00000467329.1:p.Arg244Gly
ENST00000591849.5:c.-98-6882A>G	ENSP00000465347.1:n.-98-6882A>G
ENST00000618469.2:c.5257A>G	ENSP00000478114.2:p.Arg1753Gly
ENST00000634433.2:c.5134A>G	ENSP00000489431.2:p.Arg1712Gly
ENST00000644379.1:c.1644A>G
ENST00000644379.2:c.5323A>G	ENSP00000496570.2:p.Arg1775Gly
ENST00000644555.2:c.1807A>G	ENSP00000494614.2:p.Arg603Gly
ENST00000652672.2:c.5116A>G	ENSP00000498906.2:p.Arg1706Gly