Canonical Allele Identifier: CA500146786

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740828
• ClinVar RCV Id: RCV002328479
• dbSNP Id: rs1555582549
• MyVariant Identifiers: chr17:g.41228519T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076502T>C , CM000679.2:g.43076502T>C	GRCh38
NC_000017.10:g.41228519T>C , CM000679.1:g.41228519T>C	GRCh37
NC_000017.9:g.38482045T>C	NCBI36
NG_005905.2:g.141482A>G , LRG_292:g.141482A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4467A>G	ENSP00000417241.2:p.Glu1489=
ENST00000470026.6:c.4470A>G	ENSP00000419274.2:p.Glu1490=
ENST00000473961.6:c.4344A>G	ENSP00000420201.2:p.Glu1448=
ENST00000476777.6:c.4464A>G	ENSP00000417554.2:p.Glu1488=
ENST00000477152.6:c.4392A>G	ENSP00000419988.2:p.Glu1464=
ENST00000478531.6:c.1158A>G	ENSP00000420412.2:p.Glu386=
ENST00000489037.2:c.4392A>G	ENSP00000420781.2:p.Glu1464=
ENST00000493919.6:c.1020A>G	ENSP00000418819.2:p.Glu340=
ENST00000494123.6:c.4470A>G	ENSP00000419103.2:p.Glu1490=
ENST00000497488.2:c.3582A>G	ENSP00000418986.2:p.Glu1194=
ENST00000618469.2:c.4470A>G	ENSP00000478114.2:p.Glu1490=
ENST00000634433.2:c.4347A>G	ENSP00000489431.2:p.Glu1449=
ENST00000644379.2:c.4536A>G	ENSP00000496570.2:p.Glu1512=
ENST00000644555.2:c.1020A>G	ENSP00000494614.2:p.Glu340=
ENST00000652672.2:c.4329A>G	ENSP00000498906.2:p.Glu1443=
ENST00000484087.6:c.1032A>G	ENSP00000419481.2:p.Glu344=
ENST00000700182.1:c.1077A>G	ENSP00000514849.1:p.Glu359=
ENST00000357654.9:c.4470A>G MANE Select	ENSP00000350283.3:p.Glu1490=
ENST00000471181.7:c.4533A>G	ENSP00000418960.2:p.Glu1511=
ENST00000644379.1:c.857A>G
ENST00000352993.7:c.1044A>G	ENSP00000312236.5:p.Glu348=
ENST00000357654.7:c.4470A>G	ENSP00000350283.3:p.Glu1490=
ENST00000461221.5:c.*4253A>G	ENSP00000418548.1:n.*4253A>G
ENST00000468300.5:c.1158A>G	ENSP00000417148.1:p.Glu386=
ENST00000471181.6:c.4533A>G	ENSP00000418960.2:p.Glu1511=
ENST00000478531.5:c.1158A>G	ENSP00000420412.1:p.Glu386=
ENST00000484087.5:c.783A>G	ENSP00000419481.1:p.Glu261=
ENST00000487825.5:c.786A>G	ENSP00000418212.1:p.Glu262=
ENST00000491747.6:c.1158A>G	ENSP00000420705.2:p.Glu386=
ENST00000493795.5:c.4329A>G	ENSP00000418775.1:p.Glu1443=
ENST00000493919.5:c.1020A>G	ENSP00000418819.1:p.Glu340=
ENST00000586385.5:c.5-12551A>G	ENSP00000465818.1:n.5-12551A>G
ENST00000591534.5:c.-43-1981A>G	ENSP00000467329.1:n.-43-1981A>G
ENST00000591849.5:c.-98-26312A>G	ENSP00000465347.1:n.-98-26312A>G
ENST00000621897.1:n.361A>G
NM_007294.3:c.4470A>G , LRG_292t1:c.4470A>G	NP_009225.1:p.Glu1490=
NM_007297.3:c.4329A>G	NP_009228.2:p.Glu1443=
NM_007298.3:c.1158A>G	NP_009229.2:p.Glu386=
NM_007299.3:c.1158A>G	NP_009230.2:p.Glu386=
NM_007300.3:c.4533A>G	NP_009231.2:p.Glu1511=
NR_027676.1:n.4606A>G
NM_007294.4:c.4470A>G MANE Select	NP_009225.1:p.Glu1490=
NM_007297.4:c.4329A>G	NP_009228.2:p.Glu1443=
NM_007299.4:c.1158A>G	NP_009230.2:p.Glu386=
NM_007300.4:c.4533A>G	NP_009231.2:p.Glu1511=
NR_027676.2:n.4647A>G