Canonical Allele Identifier: CA500146491

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1098753
• ClinVar RCV Id: RCV001420754
• dbSNP Id: rs1597835696
• MyVariant Identifiers: chr17:g.41226352A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074335A>G , CM000679.2:g.43074335A>G	GRCh38
NC_000017.10:g.41226352A>G , CM000679.1:g.41226352A>G	GRCh37
NC_000017.9:g.38479878A>G	NCBI36
NG_005905.2:g.143649T>C , LRG_292:g.143649T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4668T>C	ENSP00000417241.2:p.Asp1556=
ENST00000470026.6:c.4671T>C	ENSP00000419274.2:p.Asp1557=
ENST00000473961.6:c.4545T>C	ENSP00000420201.2:p.Asp1515=
ENST00000476777.6:c.4665T>C	ENSP00000417554.2:p.Asp1555=
ENST00000477152.6:c.4593T>C	ENSP00000419988.2:p.Asp1531=
ENST00000478531.6:c.1359T>C	ENSP00000420412.2:p.Asp453=
ENST00000489037.2:c.4593T>C	ENSP00000420781.2:p.Asp1531=
ENST00000493919.6:c.1221T>C	ENSP00000418819.2:p.Asp407=
ENST00000494123.6:c.4671T>C	ENSP00000419103.2:p.Asp1557=
ENST00000497488.2:c.3783T>C	ENSP00000418986.2:p.Asp1261=
ENST00000618469.2:c.4671T>C	ENSP00000478114.2:p.Asp1557=
ENST00000634433.2:c.4548T>C	ENSP00000489431.2:p.Asp1516=
ENST00000644379.2:c.4737T>C	ENSP00000496570.2:p.Asp1579=
ENST00000644555.2:c.1221T>C	ENSP00000494614.2:p.Asp407=
ENST00000652672.2:c.4530T>C	ENSP00000498906.2:p.Asp1510=
ENST00000484087.6:c.1233T>C	ENSP00000419481.2:p.Asp411=
ENST00000700182.1:c.1278T>C	ENSP00000514849.1:p.Asp426=
ENST00000357654.9:c.4671T>C MANE Select	ENSP00000350283.3:p.Asp1557=
ENST00000471181.7:c.4734T>C	ENSP00000418960.2:p.Asp1578=
ENST00000644379.1:c.1058T>C
ENST00000352993.7:c.1245T>C	ENSP00000312236.5:p.Asp415=
ENST00000357654.7:c.4671T>C	ENSP00000350283.3:p.Asp1557=
ENST00000461221.5:c.*4454T>C	ENSP00000418548.1:n.*4454T>C
ENST00000468300.5:c.1359T>C	ENSP00000417148.1:p.Asp453=
ENST00000471181.6:c.4734T>C	ENSP00000418960.2:p.Asp1578=
ENST00000478531.5:c.1359T>C	ENSP00000420412.1:p.Asp453=
ENST00000484087.5:c.984T>C	ENSP00000419481.1:p.Asp328=
ENST00000491747.6:c.1359T>C	ENSP00000420705.2:p.Asp453=
ENST00000493795.5:c.4530T>C	ENSP00000418775.1:p.Asp1510=
ENST00000493919.5:c.1221T>C	ENSP00000418819.1:p.Asp407=
ENST00000586385.5:c.5-10384T>C	ENSP00000465818.1:n.5-10384T>C
ENST00000591534.5:c.144T>C	ENSP00000467329.1:p.Asp48=
ENST00000591849.5:c.-98-24145T>C	ENSP00000465347.1:n.-98-24145T>C
NM_007294.3:c.4671T>C , LRG_292t1:c.4671T>C	NP_009225.1:p.Asp1557=
NM_007297.3:c.4530T>C	NP_009228.2:p.Asp1510=
NM_007298.3:c.1359T>C	NP_009229.2:p.Asp453=
NM_007299.3:c.1359T>C	NP_009230.2:p.Asp453=
NM_007300.3:c.4734T>C	NP_009231.2:p.Asp1578=
NR_027676.1:n.4807T>C
NM_007294.4:c.4671T>C MANE Select	NP_009225.1:p.Asp1557=
NM_007297.4:c.4530T>C	NP_009228.2:p.Asp1510=
NM_007299.4:c.1359T>C	NP_009230.2:p.Asp453=
NM_007300.4:c.4734T>C	NP_009231.2:p.Asp1578=
NR_027676.2:n.4848T>C