Canonical Allele Identifier: CA10592595

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228521C>G (hg19) ; chr17:g.43076504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076504C>G , CM000679.2:g.43076504C>G	GRCh38
NC_000017.10:g.41228521C>G , CM000679.1:g.41228521C>G	GRCh37
NC_000017.9:g.38482047C>G	NCBI36
NG_005905.2:g.141480G>C , LRG_292:g.141480G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4465G>C	ENSP00000417241.2:p.Glu1489Gln
ENST00000470026.6:c.4468G>C	ENSP00000419274.2:p.Glu1490Gln
ENST00000473961.6:c.4342G>C	ENSP00000420201.2:p.Glu1448Gln
ENST00000476777.6:c.4462G>C	ENSP00000417554.2:p.Glu1488Gln
ENST00000477152.6:c.4390G>C	ENSP00000419988.2:p.Glu1464Gln
ENST00000478531.6:c.1156G>C	ENSP00000420412.2:p.Glu386Gln
ENST00000489037.2:c.4390G>C	ENSP00000420781.2:p.Glu1464Gln
ENST00000493919.6:c.1018G>C	ENSP00000418819.2:p.Glu340Gln
ENST00000494123.6:c.4468G>C	ENSP00000419103.2:p.Glu1490Gln
ENST00000497488.2:c.3580G>C	ENSP00000418986.2:p.Glu1194Gln
ENST00000618469.2:c.4468G>C	ENSP00000478114.2:p.Glu1490Gln
ENST00000634433.2:c.4345G>C	ENSP00000489431.2:p.Glu1449Gln
ENST00000644379.2:c.4534G>C	ENSP00000496570.2:p.Glu1512Gln
ENST00000644555.2:c.1018G>C	ENSP00000494614.2:p.Glu340Gln
ENST00000652672.2:c.4327G>C	ENSP00000498906.2:p.Glu1443Gln
ENST00000484087.6:c.1030G>C	ENSP00000419481.2:p.Glu344Gln
ENST00000700182.1:c.1075G>C	ENSP00000514849.1:p.Glu359Gln
ENST00000357654.9:c.4468G>C MANE Select	ENSP00000350283.3:p.Glu1490Gln
ENST00000471181.7:c.4531G>C	ENSP00000418960.2:p.Glu1511Gln
ENST00000644379.1:c.855G>C
ENST00000352993.7:c.1042G>C	ENSP00000312236.5:p.Glu348Gln
ENST00000357654.7:c.4468G>C	ENSP00000350283.3:p.Glu1490Gln
ENST00000461221.5:c.*4251G>C	ENSP00000418548.1:n.*4251G>C
ENST00000468300.5:c.1156G>C	ENSP00000417148.1:p.Glu386Gln
ENST00000471181.6:c.4531G>C	ENSP00000418960.2:p.Glu1511Gln
ENST00000478531.5:c.1156G>C	ENSP00000420412.1:p.Glu386Gln
ENST00000484087.5:c.781G>C	ENSP00000419481.1:p.Glu261Gln
ENST00000487825.5:c.784G>C	ENSP00000418212.1:p.Glu262Gln
ENST00000491747.6:c.1156G>C	ENSP00000420705.2:p.Glu386Gln
ENST00000493795.5:c.4327G>C	ENSP00000418775.1:p.Glu1443Gln
ENST00000493919.5:c.1018G>C	ENSP00000418819.1:p.Glu340Gln
ENST00000586385.5:c.5-12553G>C	ENSP00000465818.1:n.5-12553G>C
ENST00000591534.5:c.-43-1983G>C	ENSP00000467329.1:n.-43-1983G>C
ENST00000591849.5:c.-98-26314G>C	ENSP00000465347.1:n.-98-26314G>C
ENST00000621897.1:n.359G>C
NM_007294.3:c.4468G>C , LRG_292t1:c.4468G>C	NP_009225.1:p.Glu1490Gln
NM_007297.3:c.4327G>C	NP_009228.2:p.Glu1443Gln
NM_007298.3:c.1156G>C	NP_009229.2:p.Glu386Gln
NM_007299.3:c.1156G>C	NP_009230.2:p.Glu386Gln
NM_007300.3:c.4531G>C	NP_009231.2:p.Glu1511Gln
NR_027676.1:n.4604G>C
NM_007294.4:c.4468G>C MANE Select	NP_009225.1:p.Glu1490Gln
NM_007297.4:c.4327G>C	NP_009228.2:p.Glu1443Gln
NM_007299.4:c.1156G>C	NP_009230.2:p.Glu386Gln
NM_007300.4:c.4531G>C	NP_009231.2:p.Glu1511Gln
NR_027676.2:n.4645G>C