Canonical Allele Identifier: CA10593431

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154254220
• MyVariant Identifiers: chr17:g.41243001C>G (hg19) ; chr17:g.43090984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090984C>G , CM000679.2:g.43090984C>G	GRCh38
NC_000017.10:g.41243001C>G , CM000679.1:g.41243001C>G	GRCh37
NC_000017.9:g.38496527C>G	NCBI36
NG_005905.2:g.127000G>C , LRG_292:g.127000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4145G>C	ENSP00000417241.2:p.Cys1382Ser
ENST00000470026.6:c.4145G>C	ENSP00000419274.2:p.Cys1382Ser
ENST00000473961.6:c.4019G>C	ENSP00000420201.2:p.Cys1340Ser
ENST00000476777.6:c.4142G>C	ENSP00000417554.2:p.Cys1381Ser
ENST00000477152.6:c.4067G>C	ENSP00000419988.2:p.Cys1356Ser
ENST00000478531.6:c.833G>C	ENSP00000420412.2:p.Cys278Ser
ENST00000489037.2:c.4067G>C	ENSP00000420781.2:p.Cys1356Ser
ENST00000493919.6:c.695G>C	ENSP00000418819.2:p.Cys232Ser
ENST00000494123.6:c.4145G>C	ENSP00000419103.2:p.Cys1382Ser
ENST00000497488.2:c.3257G>C	ENSP00000418986.2:p.Cys1086Ser
ENST00000618469.2:c.4145G>C	ENSP00000478114.2:p.Cys1382Ser
ENST00000634433.2:c.4022G>C	ENSP00000489431.2:p.Cys1341Ser
ENST00000644379.2:c.4145G>C	ENSP00000496570.2:p.Cys1382Ser
ENST00000644555.2:c.695G>C	ENSP00000494614.2:p.Cys232Ser
ENST00000652672.2:c.4004G>C	ENSP00000498906.2:p.Cys1335Ser
ENST00000484087.6:c.713G>C	ENSP00000419481.2:p.Cys238Ser
ENST00000700182.1:c.755G>C	ENSP00000514849.1:p.Cys252Ser
ENST00000357654.9:c.4145G>C MANE Select	ENSP00000350283.3:p.Cys1382Ser
ENST00000471181.7:c.4145G>C	ENSP00000418960.2:p.Cys1382Ser
ENST00000644379.1:c.466G>C
ENST00000352993.7:c.719G>C	ENSP00000312236.5:p.Cys240Ser
ENST00000357654.7:c.4145G>C	ENSP00000350283.3:p.Cys1382Ser
ENST00000461221.5:c.*3928G>C	ENSP00000418548.1:n.*3928G>C
ENST00000461574.1:c.439G>C
ENST00000468300.5:c.836G>C	ENSP00000417148.1:p.Cys279Ser
ENST00000471181.6:c.4145G>C	ENSP00000418960.2:p.Cys1382Ser
ENST00000478531.5:c.833G>C	ENSP00000420412.1:p.Cys278Ser
ENST00000484087.5:c.458G>C	ENSP00000419481.1:p.Cys153Ser
ENST00000487825.5:c.461G>C	ENSP00000418212.1:p.Cys154Ser
ENST00000491747.6:c.836G>C	ENSP00000420705.2:p.Cys279Ser
ENST00000493795.5:c.4004G>C	ENSP00000418775.1:p.Cys1335Ser
ENST00000493919.5:c.695G>C	ENSP00000418819.1:p.Cys232Ser
ENST00000586385.5:c.5-27033G>C	ENSP00000465818.1:n.5-27033G>C
ENST00000591534.5:c.-43-16463G>C	ENSP00000467329.1:n.-43-16463G>C
ENST00000591849.5:c.-99+34287G>C	ENSP00000465347.1:n.-99+34287G>C
NM_007294.3:c.4145G>C , LRG_292t1:c.4145G>C	NP_009225.1:p.Cys1382Ser
NM_007297.3:c.4004G>C	NP_009228.2:p.Cys1335Ser
NM_007298.3:c.836G>C	NP_009229.2:p.Cys279Ser
NM_007299.3:c.836G>C	NP_009230.2:p.Cys279Ser
NM_007300.3:c.4145G>C	NP_009231.2:p.Cys1382Ser
NR_027676.1:n.4281G>C
NM_007294.4:c.4145G>C MANE Select	NP_009225.1:p.Cys1382Ser
NM_007297.4:c.4004G>C	NP_009228.2:p.Cys1335Ser
NM_007299.4:c.836G>C	NP_009230.2:p.Cys279Ser
NM_007300.4:c.4145G>C	NP_009231.2:p.Cys1382Ser
NR_027676.2:n.4322G>C