Canonical Allele Identifier: CA500231811

Gene: BRCA1

Linked Data

• dbSNP Id: rs1555580852
• gnomAD v4: 17-43071084-A-G
• MyVariant Identifiers: chr17:g.41223101A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071084A>G , CM000679.2:g.43071084A>G	GRCh38
NC_000017.10:g.41223101A>G , CM000679.1:g.41223101A>G	GRCh37
NC_000017.9:g.38476627A>G	NCBI36
NG_005905.2:g.146900T>C , LRG_292:g.146900T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4827T>C	ENSP00000417241.2:p.Ser1609=
ENST00000470026.6:c.4830T>C	ENSP00000419274.2:p.Ser1610=
ENST00000473961.6:c.4704T>C	ENSP00000420201.2:p.Ser1568=
ENST00000476777.6:c.4824T>C	ENSP00000417554.2:p.Ser1608=
ENST00000477152.6:c.4752T>C	ENSP00000419988.2:p.Ser1584=
ENST00000478531.6:c.1518T>C	ENSP00000420412.2:p.Ser506=
ENST00000489037.2:c.4752T>C	ENSP00000420781.2:p.Ser1584=
ENST00000493919.6:c.1380T>C	ENSP00000418819.2:p.Ser460=
ENST00000494123.6:c.4830T>C	ENSP00000419103.2:p.Ser1610=
ENST00000497488.2:c.3942T>C	ENSP00000418986.2:p.Ser1314=
ENST00000618469.2:c.4830T>C	ENSP00000478114.2:p.Ser1610=
ENST00000634433.2:c.4707T>C	ENSP00000489431.2:p.Ser1569=
ENST00000644379.2:c.4896T>C	ENSP00000496570.2:p.Ser1632=
ENST00000644555.2:c.1380T>C	ENSP00000494614.2:p.Ser460=
ENST00000652672.2:c.4689T>C	ENSP00000498906.2:p.Ser1563=
ENST00000484087.6:c.1392T>C	ENSP00000419481.2:p.Ser464=
ENST00000700182.1:c.1437T>C	ENSP00000514849.1:p.Ser479=
ENST00000357654.9:c.4830T>C MANE Select	ENSP00000350283.3:p.Ser1610=
ENST00000471181.7:c.4893T>C	ENSP00000418960.2:p.Ser1631=
ENST00000644379.1:c.1217T>C
ENST00000352993.7:c.1404T>C	ENSP00000312236.5:p.Ser468=
ENST00000357654.7:c.4830T>C	ENSP00000350283.3:p.Ser1610=
ENST00000461221.5:c.*4613T>C	ENSP00000418548.1:n.*4613T>C
ENST00000468300.5:c.1518T>C	ENSP00000417148.1:p.Ser506=
ENST00000471181.6:c.4893T>C	ENSP00000418960.2:p.Ser1631=
ENST00000478531.5:c.1518T>C	ENSP00000420412.1:p.Ser506=
ENST00000484087.5:c.1143T>C	ENSP00000419481.1:p.Ser381=
ENST00000491747.6:c.1518T>C	ENSP00000420705.2:p.Ser506=
ENST00000493795.5:c.4689T>C	ENSP00000418775.1:p.Ser1563=
ENST00000493919.5:c.1380T>C	ENSP00000418819.1:p.Ser460=
ENST00000586385.5:c.5-7133T>C	ENSP00000465818.1:n.5-7133T>C
ENST00000591534.5:c.303T>C	ENSP00000467329.1:p.Ser101=
ENST00000591849.5:c.-98-20894T>C	ENSP00000465347.1:n.-98-20894T>C
NM_007294.3:c.4830T>C , LRG_292t1:c.4830T>C	NP_009225.1:p.Ser1610=
NM_007297.3:c.4689T>C	NP_009228.2:p.Ser1563=
NM_007298.3:c.1518T>C	NP_009229.2:p.Ser506=
NM_007299.3:c.1518T>C	NP_009230.2:p.Ser506=
NM_007300.3:c.4893T>C	NP_009231.2:p.Ser1631=
NR_027676.1:n.4966T>C
NM_007294.4:c.4830T>C MANE Select	NP_009225.1:p.Ser1610=
NM_007297.4:c.4689T>C	NP_009228.2:p.Ser1563=
NM_007299.4:c.1518T>C	NP_009230.2:p.Ser506=
NM_007300.4:c.4893T>C	NP_009231.2:p.Ser1631=
NR_027676.2:n.5007T>C