Canonical Allele Identifier: CA10591719

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071011C>G , CM000679.2:g.43071011C>G	GRCh38
NC_000017.10:g.41223028C>G , CM000679.1:g.41223028C>G	GRCh37
NC_000017.9:g.38476554C>G	NCBI36
NG_005905.2:g.146973G>C , LRG_292:g.146973G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4903G>C MANE Select	NP_009225.1:p.Glu1635Gln
ENST00000357654.9:c.4903G>C MANE Select	ENSP00000350283.3:p.Glu1635Gln
NM_007294.3:c.4903G>C , LRG_292t1:c.4903G>C	NP_009225.1:p.Glu1635Gln
NM_007297.3:c.4762G>C	NP_009228.2:p.Glu1588Gln
NM_007297.4:c.4762G>C	NP_009228.2:p.Glu1588Gln
NM_007298.3:c.1591G>C	NP_009229.2:p.Glu531Gln
NM_007299.3:c.1591G>C	NP_009230.2:p.Glu531Gln
NM_007299.4:c.1591G>C	NP_009230.2:p.Glu531Gln
NM_007300.3:c.4966G>C	NP_009231.2:p.Glu1656Gln
NM_007300.4:c.4966G>C	NP_009231.2:p.Glu1656Gln
NR_027676.1:n.5039G>C
NR_027676.2:n.5080G>C
ENST00000352993.7:c.1477G>C	ENSP00000312236.5:p.Glu493Gln
ENST00000357654.7:c.4903G>C	ENSP00000350283.3:p.Glu1635Gln
ENST00000461221.5:c.*4686G>C	ENSP00000418548.1:n.*4686G>C
ENST00000461574.2:c.4900G>C	ENSP00000417241.2:p.Glu1634Gln
ENST00000468300.5:c.1591G>C	ENSP00000417148.1:p.Glu531Gln
ENST00000470026.6:c.4903G>C	ENSP00000419274.2:p.Glu1635Gln
ENST00000471181.6:c.4966G>C	ENSP00000418960.2:p.Glu1656Gln
ENST00000471181.7:c.4966G>C	ENSP00000418960.2:p.Glu1656Gln
ENST00000472490.1:n.56G>C
ENST00000473961.6:c.4777G>C	ENSP00000420201.2:p.Glu1593Gln
ENST00000476777.6:c.4897G>C	ENSP00000417554.2:p.Glu1633Gln
ENST00000477152.6:c.4825G>C	ENSP00000419988.2:p.Glu1609Gln
ENST00000478531.5:c.1591G>C	ENSP00000420412.1:p.Glu531Gln
ENST00000478531.6:c.1591G>C	ENSP00000420412.2:p.Glu531Gln
ENST00000484087.5:c.1216G>C	ENSP00000419481.1:p.Glu406Gln
ENST00000484087.6:c.1465G>C	ENSP00000419481.2:p.Glu489Gln
ENST00000489037.2:c.4825G>C	ENSP00000420781.2:p.Glu1609Gln
ENST00000491747.6:c.1591G>C	ENSP00000420705.2:p.Glu531Gln
ENST00000493795.5:c.4762G>C	ENSP00000418775.1:p.Glu1588Gln
ENST00000493919.5:c.1453G>C	ENSP00000418819.1:p.Glu485Gln
ENST00000493919.6:c.1453G>C	ENSP00000418819.2:p.Glu485Gln
ENST00000494123.6:c.4903G>C	ENSP00000419103.2:p.Glu1635Gln
ENST00000497488.2:c.4015G>C	ENSP00000418986.2:p.Glu1339Gln
ENST00000586385.5:c.5-7060G>C	ENSP00000465818.1:n.5-7060G>C
ENST00000591534.5:c.376G>C	ENSP00000467329.1:p.Glu126Gln
ENST00000591849.5:c.-98-20821G>C	ENSP00000465347.1:n.-98-20821G>C
ENST00000618469.2:c.4903G>C	ENSP00000478114.2:p.Glu1635Gln
ENST00000634433.2:c.4780G>C	ENSP00000489431.2:p.Glu1594Gln
ENST00000644379.1:c.1290G>C
ENST00000644379.2:c.4969G>C	ENSP00000496570.2:p.Glu1657Gln
ENST00000644555.2:c.1453G>C	ENSP00000494614.2:p.Glu485Gln
ENST00000652672.2:c.4762G>C	ENSP00000498906.2:p.Glu1588Gln
ENST00000700182.1:c.1510G>C	ENSP00000514849.1:p.Glu504Gln