Canonical Allele Identifier: CA003444

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91646
• ClinVar RCV Id: RCV000077163 ; RCV000130276 ; RCV001843474 ; RCV001854358
• dbSNP Id: rs398122694
• gnomAD v4: 17-43051110-C-A
• MyVariant Identifiers: chr17:g.41203127C>A (hg19) ; chr17:g.43051110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051110C>A , CM000679.2:g.43051110C>A	GRCh38
NC_000017.10:g.41203127C>A , CM000679.1:g.41203127C>A	GRCh37
NC_000017.9:g.38456653C>A	NCBI36
NG_005905.2:g.166874G>T , LRG_292:g.166874G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5282G>T	ENSP00000417241.2:p.Arg1761Met
ENST00000470026.6:c.5285G>T	ENSP00000419274.2:p.Arg1762Met
ENST00000473961.6:c.5159G>T	ENSP00000420201.2:p.Arg1720Met
ENST00000476777.6:c.5279G>T	ENSP00000417554.2:p.Arg1760Met
ENST00000477152.6:c.5207G>T	ENSP00000419988.2:p.Arg1736Met
ENST00000478531.6:c.1973G>T	ENSP00000420412.2:p.Arg658Met
ENST00000489037.2:c.5207G>T	ENSP00000420781.2:p.Arg1736Met
ENST00000493919.6:c.1835G>T	ENSP00000418819.2:p.Arg612Met
ENST00000494123.6:c.5285G>T	ENSP00000419103.2:p.Arg1762Met
ENST00000497488.2:c.4397G>T	ENSP00000418986.2:p.Arg1466Met
ENST00000618469.2:c.5285G>T	ENSP00000478114.2:p.Arg1762Met
ENST00000634433.2:c.5162G>T	ENSP00000489431.2:p.Arg1721Met
ENST00000644379.2:c.5351G>T	ENSP00000496570.2:p.Arg1784Met
ENST00000644555.2:c.1835G>T	ENSP00000494614.2:p.Arg612Met
ENST00000652672.2:c.5144G>T	ENSP00000498906.2:p.Arg1715Met
ENST00000484087.6:c.1847G>T	ENSP00000419481.2:p.Arg616Met
ENST00000357654.9:c.5285G>T MANE Select	ENSP00000350283.3:p.Arg1762Met
ENST00000471181.7:c.5348G>T	ENSP00000418960.2:p.Arg1783Met
ENST00000644379.1:c.1672G>T
ENST00000352993.7:c.1859G>T	ENSP00000312236.5:p.Arg620Met
ENST00000357654.7:c.5285G>T	ENSP00000350283.3:p.Arg1762Met
ENST00000461221.5:c.*5068G>T	ENSP00000418548.1:n.*5068G>T
ENST00000468300.5:c.1973G>T	ENSP00000417148.1:p.Arg658Met
ENST00000471181.6:c.5348G>T	ENSP00000418960.2:p.Arg1783Met
ENST00000491747.6:c.1973G>T	ENSP00000420705.2:p.Arg658Met
ENST00000493795.5:c.5144G>T	ENSP00000418775.1:p.Arg1715Met
ENST00000586385.5:c.215G>T	ENSP00000465818.1:p.Arg72Met
ENST00000591534.5:c.758G>T	ENSP00000467329.1:p.Arg253Met
ENST00000591849.5:c.-98-920G>T	ENSP00000465347.1:n.-98-920G>T
NM_007294.3:c.5285G>T , LRG_292t1:c.5285G>T	NP_009225.1:p.Arg1762Met
NM_007297.3:c.5144G>T	NP_009228.2:p.Arg1715Met
NM_007298.3:c.1973G>T	NP_009229.2:p.Arg658Met
NM_007299.3:c.1973G>T	NP_009230.2:p.Arg658Met
NM_007300.3:c.5348G>T	NP_009231.2:p.Arg1783Met
NR_027676.1:n.5421G>T
NM_007294.4:c.5285G>T MANE Select	NP_009225.1:p.Arg1762Met
NM_007297.4:c.5144G>T	NP_009228.2:p.Arg1715Met
NM_007299.4:c.1973G>T	NP_009230.2:p.Arg658Met
NM_007300.4:c.5348G>T	NP_009231.2:p.Arg1783Met
NR_027676.2:n.5462G>T