Canonical Allele Identifier: CA16615748

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 415579
• ClinVar RCV Id: RCV000487079 ; RCV001077594 ; RCV001023552 ; RCV001411236 ; RCV003321624
• dbSNP Id: rs1060504574
• gnomAD v4: 17-43063920-T-C
• MyVariant Identifiers: chr17:g.41215937T>C (hg19) ; chr17:g.43063920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063920T>C , CM000679.2:g.43063920T>C	GRCh38
NC_000017.10:g.41215937T>C , CM000679.1:g.41215937T>C	GRCh37
NC_000017.9:g.38469463T>C	NCBI36
NG_005905.2:g.154064A>G , LRG_292:g.154064A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5103A>G	ENSP00000417241.2:p.Lys1701=
ENST00000470026.6:c.5106A>G	ENSP00000419274.2:p.Lys1702=
ENST00000473961.6:c.4980A>G	ENSP00000420201.2:p.Lys1660=
ENST00000476777.6:c.5100A>G	ENSP00000417554.2:p.Lys1700=
ENST00000477152.6:c.5028A>G	ENSP00000419988.2:p.Lys1676=
ENST00000478531.6:c.1794A>G	ENSP00000420412.2:p.Lys598=
ENST00000489037.2:c.5028A>G	ENSP00000420781.2:p.Lys1676=
ENST00000493919.6:c.1656A>G	ENSP00000418819.2:p.Lys552=
ENST00000494123.6:c.5106A>G	ENSP00000419103.2:p.Lys1702=
ENST00000497488.2:c.4218A>G	ENSP00000418986.2:p.Lys1406=
ENST00000618469.2:c.5106A>G	ENSP00000478114.2:p.Lys1702=
ENST00000634433.2:c.4983A>G	ENSP00000489431.2:p.Lys1661=
ENST00000644379.2:c.5172A>G	ENSP00000496570.2:p.Lys1724=
ENST00000644555.2:c.1656A>G	ENSP00000494614.2:p.Lys552=
ENST00000652672.2:c.4965A>G	ENSP00000498906.2:p.Lys1655=
ENST00000484087.6:c.1668A>G	ENSP00000419481.2:p.Lys556=
ENST00000357654.9:c.5106A>G MANE Select	ENSP00000350283.3:p.Lys1702=
ENST00000471181.7:c.5169A>G	ENSP00000418960.2:p.Lys1723=
ENST00000644379.1:c.1493A>G
ENST00000352993.7:c.1680A>G	ENSP00000312236.5:p.Lys560=
ENST00000357654.7:c.5106A>G	ENSP00000350283.3:p.Lys1702=
ENST00000461221.5:c.*4889A>G	ENSP00000418548.1:n.*4889A>G
ENST00000468300.5:c.1794A>G	ENSP00000417148.1:p.Lys598=
ENST00000471181.6:c.5169A>G	ENSP00000418960.2:p.Lys1723=
ENST00000478531.5:c.1794A>G	ENSP00000420412.1:p.Lys598=
ENST00000484087.5:c.1419A>G	ENSP00000419481.1:p.Lys473=
ENST00000491747.6:c.1794A>G	ENSP00000420705.2:p.Lys598=
ENST00000493795.5:c.4965A>G	ENSP00000418775.1:p.Lys1655=
ENST00000493919.5:c.1656A>G	ENSP00000418819.1:p.Lys552=
ENST00000586385.5:c.36A>G	ENSP00000465818.1:p.Lys12=
ENST00000591534.5:c.579A>G	ENSP00000467329.1:p.Lys193=
ENST00000591849.5:c.-98-13730A>G	ENSP00000465347.1:n.-98-13730A>G
NM_007294.3:c.5106A>G , LRG_292t1:c.5106A>G	NP_009225.1:p.Lys1702=
NM_007297.3:c.4965A>G	NP_009228.2:p.Lys1655=
NM_007298.3:c.1794A>G	NP_009229.2:p.Lys598=
NM_007299.3:c.1794A>G	NP_009230.2:p.Lys598=
NM_007300.3:c.5169A>G	NP_009231.2:p.Lys1723=
NR_027676.1:n.5242A>G
NM_007294.4:c.5106A>G MANE Select	NP_009225.1:p.Lys1702=
NM_007297.4:c.4965A>G	NP_009228.2:p.Lys1655=
NM_007299.4:c.1794A>G	NP_009230.2:p.Lys598=
NM_007300.4:c.5169A>G	NP_009231.2:p.Lys1723=
NR_027676.2:n.5283A>G