Canonical Allele Identifier: CA10593527

Gene: BRCA1

Linked Data

• dbSNP Id: rs786202998
• COSMIC: COSM1750065 ; COSM1750066
• MyVariant Identifiers: chr17:g.41243047C>G (hg19) ; chr17:g.43091030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091030C>G , CM000679.2:g.43091030C>G	GRCh38
NC_000017.10:g.41243047C>G , CM000679.1:g.41243047C>G	GRCh37
NC_000017.9:g.38496573C>G	NCBI36
NG_005905.2:g.126954G>C , LRG_292:g.126954G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4099G>C	ENSP00000417241.2:p.Glu1367Gln
ENST00000470026.6:c.4099G>C	ENSP00000419274.2:p.Glu1367Gln
ENST00000473961.6:c.3973G>C	ENSP00000420201.2:p.Glu1325Gln
ENST00000476777.6:c.4096G>C	ENSP00000417554.2:p.Glu1366Gln
ENST00000477152.6:c.4021G>C	ENSP00000419988.2:p.Glu1341Gln
ENST00000478531.6:c.787G>C	ENSP00000420412.2:p.Glu263Gln
ENST00000489037.2:c.4021G>C	ENSP00000420781.2:p.Glu1341Gln
ENST00000493919.6:c.649G>C	ENSP00000418819.2:p.Glu217Gln
ENST00000494123.6:c.4099G>C	ENSP00000419103.2:p.Glu1367Gln
ENST00000497488.2:c.3211G>C	ENSP00000418986.2:p.Glu1071Gln
ENST00000618469.2:c.4099G>C	ENSP00000478114.2:p.Glu1367Gln
ENST00000634433.2:c.3976G>C	ENSP00000489431.2:p.Glu1326Gln
ENST00000644379.2:c.4099G>C	ENSP00000496570.2:p.Glu1367Gln
ENST00000644555.2:c.649G>C	ENSP00000494614.2:p.Glu217Gln
ENST00000652672.2:c.3958G>C	ENSP00000498906.2:p.Glu1320Gln
ENST00000484087.6:c.667G>C	ENSP00000419481.2:p.Glu223Gln
ENST00000700182.1:c.709G>C	ENSP00000514849.1:p.Glu237Gln
ENST00000357654.9:c.4099G>C MANE Select	ENSP00000350283.3:p.Glu1367Gln
ENST00000471181.7:c.4099G>C	ENSP00000418960.2:p.Glu1367Gln
ENST00000644379.1:c.420G>C
ENST00000352993.7:c.673G>C	ENSP00000312236.5:p.Glu225Gln
ENST00000357654.7:c.4099G>C	ENSP00000350283.3:p.Glu1367Gln
ENST00000461221.5:c.*3882G>C	ENSP00000418548.1:n.*3882G>C
ENST00000461574.1:c.393G>C
ENST00000468300.5:c.790G>C	ENSP00000417148.1:p.Glu264Gln
ENST00000471181.6:c.4099G>C	ENSP00000418960.2:p.Glu1367Gln
ENST00000478531.5:c.787G>C	ENSP00000420412.1:p.Glu263Gln
ENST00000484087.5:c.412G>C	ENSP00000419481.1:p.Glu138Gln
ENST00000487825.5:c.415G>C	ENSP00000418212.1:p.Glu139Gln
ENST00000491747.6:c.790G>C	ENSP00000420705.2:p.Glu264Gln
ENST00000493795.5:c.3958G>C	ENSP00000418775.1:p.Glu1320Gln
ENST00000493919.5:c.649G>C	ENSP00000418819.1:p.Glu217Gln
ENST00000586385.5:c.5-27079G>C	ENSP00000465818.1:n.5-27079G>C
ENST00000591534.5:c.-43-16509G>C	ENSP00000467329.1:n.-43-16509G>C
ENST00000591849.5:c.-99+34241G>C	ENSP00000465347.1:n.-99+34241G>C
NM_007294.3:c.4099G>C , LRG_292t1:c.4099G>C	NP_009225.1:p.Glu1367Gln
NM_007297.3:c.3958G>C	NP_009228.2:p.Glu1320Gln
NM_007298.3:c.790G>C	NP_009229.2:p.Glu264Gln
NM_007299.3:c.790G>C	NP_009230.2:p.Glu264Gln
NM_007300.3:c.4099G>C	NP_009231.2:p.Glu1367Gln
NR_027676.1:n.4235G>C
NM_007294.4:c.4099G>C MANE Select	NP_009225.1:p.Glu1367Gln
NM_007297.4:c.3958G>C	NP_009228.2:p.Glu1320Gln
NM_007299.4:c.790G>C	NP_009230.2:p.Glu264Gln
NM_007300.4:c.4099G>C	NP_009231.2:p.Glu1367Gln
NR_027676.2:n.4276G>C