Canonical Allele Identifier: CA10590702

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049141A>G , CM000679.2:g.43049141A>G	GRCh38
NC_000017.10:g.41201158A>G , CM000679.1:g.41201158A>G	GRCh37
NC_000017.9:g.38454684A>G	NCBI36
NG_005905.2:g.168843T>C , LRG_292:g.168843T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5386T>C MANE Select	NP_009225.1:p.Ser1796Pro
ENST00000357654.9:c.5386T>C MANE Select	ENSP00000350283.3:p.Ser1796Pro
NM_007294.3:c.5386T>C , LRG_292t1:c.5386T>C	NP_009225.1:p.Ser1796Pro
NM_007297.3:c.5245T>C	NP_009228.2:p.Ser1749Pro
NM_007297.4:c.5245T>C	NP_009228.2:p.Ser1749Pro
NM_007298.3:c.2074T>C	NP_009229.2:p.Ser692Pro
NM_007299.3:c.2021-1438T>C	NP_009230.2:n.2021-1438T>C
NM_007299.4:c.2021-1438T>C	NP_009230.2:n.2021-1438T>C
NM_007300.3:c.5449T>C	NP_009231.2:p.Ser1817Pro
NM_007300.4:c.5449T>C	NP_009231.2:p.Ser1817Pro
NR_027676.1:n.5522T>C
NR_027676.2:n.5563T>C
ENST00000352993.7:c.1960T>C	ENSP00000312236.5:p.Ser654Pro
ENST00000357654.7:c.5386T>C	ENSP00000350283.3:p.Ser1796Pro
ENST00000461221.5:c.*5169T>C	ENSP00000418548.1:n.*5169T>C
ENST00000461574.2:c.5383T>C	ENSP00000417241.2:p.Ser1795Pro
ENST00000468300.5:c.2021-1438T>C	ENSP00000417148.1:n.2021-1438T>C
ENST00000470026.6:c.5386T>C	ENSP00000419274.2:p.Ser1796Pro
ENST00000471181.6:c.5449T>C	ENSP00000418960.2:p.Ser1817Pro
ENST00000471181.7:c.5449T>C	ENSP00000418960.2:p.Ser1817Pro
ENST00000473961.6:c.5260T>C	ENSP00000420201.2:p.Ser1754Pro
ENST00000476777.6:c.5380T>C	ENSP00000417554.2:p.Ser1794Pro
ENST00000477152.6:c.5308T>C	ENSP00000419988.2:p.Ser1770Pro
ENST00000478531.6:c.2074T>C	ENSP00000420412.2:p.Ser692Pro
ENST00000484087.6:c.1948T>C	ENSP00000419481.2:p.Ser650Pro
ENST00000489037.2:c.5308T>C	ENSP00000420781.2:p.Ser1770Pro
ENST00000491747.6:c.2074T>C	ENSP00000420705.2:p.Ser692Pro
ENST00000493795.5:c.5245T>C	ENSP00000418775.1:p.Ser1749Pro
ENST00000493919.6:c.1936T>C	ENSP00000418819.2:p.Ser646Pro
ENST00000494123.6:c.5386T>C	ENSP00000419103.2:p.Ser1796Pro
ENST00000497488.2:c.4498T>C	ENSP00000418986.2:p.Ser1500Pro
ENST00000586385.5:c.316T>C	ENSP00000465818.1:p.Ser106Pro
ENST00000591534.5:c.859T>C	ENSP00000467329.1:p.Ser287Pro
ENST00000591849.5:c.85T>C	ENSP00000465347.1:p.Ser29Pro
ENST00000618469.2:c.5386T>C	ENSP00000478114.2:p.Ser1796Pro
ENST00000634433.2:c.5263T>C	ENSP00000489431.2:p.Ser1755Pro
ENST00000644379.1:c.1773T>C
ENST00000644379.2:c.5452T>C	ENSP00000496570.2:p.Ser1818Pro
ENST00000644555.2:c.1936T>C	ENSP00000494614.2:p.Ser646Pro
ENST00000652672.2:c.5245T>C	ENSP00000498906.2:p.Ser1749Pro
ENST00000700081.1:n.1269T>C