Canonical Allele Identifier: CA10590792

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049192G>C , CM000679.2:g.43049192G>C	GRCh38
NC_000017.10:g.41201209G>C , CM000679.1:g.41201209G>C	GRCh37
NC_000017.9:g.38454735G>C	NCBI36
NG_005905.2:g.168792C>G , LRG_292:g.168792C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5335C>G MANE Select	NP_009225.1:p.Gln1779Glu
ENST00000357654.9:c.5335C>G MANE Select	ENSP00000350283.3:p.Gln1779Glu
NM_007294.3:c.5335C>G , LRG_292t1:c.5335C>G	NP_009225.1:p.Gln1779Glu
NM_007297.3:c.5194C>G	NP_009228.2:p.Gln1732Glu
NM_007297.4:c.5194C>G	NP_009228.2:p.Gln1732Glu
NM_007298.3:c.2023C>G	NP_009229.2:p.Gln675Glu
NM_007299.3:c.2021-1489C>G	NP_009230.2:n.2021-1489C>G
NM_007299.4:c.2021-1489C>G	NP_009230.2:n.2021-1489C>G
NM_007300.3:c.5398C>G	NP_009231.2:p.Gln1800Glu
NM_007300.4:c.5398C>G	NP_009231.2:p.Gln1800Glu
NR_027676.1:n.5471C>G
NR_027676.2:n.5512C>G
ENST00000352993.7:c.1909C>G	ENSP00000312236.5:p.Gln637Glu
ENST00000357654.7:c.5335C>G	ENSP00000350283.3:p.Gln1779Glu
ENST00000461221.5:c.*5118C>G	ENSP00000418548.1:n.*5118C>G
ENST00000461574.2:c.5332C>G	ENSP00000417241.2:p.Gln1778Glu
ENST00000468300.5:c.2021-1489C>G	ENSP00000417148.1:n.2021-1489C>G
ENST00000470026.6:c.5335C>G	ENSP00000419274.2:p.Gln1779Glu
ENST00000471181.6:c.5398C>G	ENSP00000418960.2:p.Gln1800Glu
ENST00000471181.7:c.5398C>G	ENSP00000418960.2:p.Gln1800Glu
ENST00000473961.6:c.5209C>G	ENSP00000420201.2:p.Gln1737Glu
ENST00000476777.6:c.5329C>G	ENSP00000417554.2:p.Gln1777Glu
ENST00000477152.6:c.5257C>G	ENSP00000419988.2:p.Gln1753Glu
ENST00000478531.6:c.2023C>G	ENSP00000420412.2:p.Gln675Glu
ENST00000484087.6:c.1897C>G	ENSP00000419481.2:p.Gln633Glu
ENST00000489037.2:c.5257C>G	ENSP00000420781.2:p.Gln1753Glu
ENST00000491747.6:c.2023C>G	ENSP00000420705.2:p.Gln675Glu
ENST00000493795.5:c.5194C>G	ENSP00000418775.1:p.Gln1732Glu
ENST00000493919.6:c.1885C>G	ENSP00000418819.2:p.Gln629Glu
ENST00000494123.6:c.5335C>G	ENSP00000419103.2:p.Gln1779Glu
ENST00000497488.2:c.4447C>G	ENSP00000418986.2:p.Gln1483Glu
ENST00000586385.5:c.265C>G	ENSP00000465818.1:p.Gln89Glu
ENST00000591534.5:c.808C>G	ENSP00000467329.1:p.Gln270Glu
ENST00000591849.5:c.34C>G	ENSP00000465347.1:p.Gln12Glu
ENST00000618469.2:c.5335C>G	ENSP00000478114.2:p.Gln1779Glu
ENST00000634433.2:c.5212C>G	ENSP00000489431.2:p.Gln1738Glu
ENST00000644379.1:c.1722C>G
ENST00000644379.2:c.5401C>G	ENSP00000496570.2:p.Gln1801Glu
ENST00000644555.2:c.1885C>G	ENSP00000494614.2:p.Gln629Glu
ENST00000652672.2:c.5194C>G	ENSP00000498906.2:p.Gln1732Glu
ENST00000700081.1:n.1218C>G