Canonical Allele Identifier: CA10591045

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433728
• ClinVar RCV Id: RCV000502853 ; RCV001075934 ; RCV001379713
• dbSNP Id: rs80357123
• MyVariant Identifiers: chr17:g.41209095G>C (hg19) ; chr17:g.43057078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057078G>C , CM000679.2:g.43057078G>C	GRCh38
NC_000017.10:g.41209095G>C , CM000679.1:g.41209095G>C	GRCh37
NC_000017.9:g.38462621G>C	NCBI36
NG_005905.2:g.160906C>G , LRG_292:g.160906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5248C>G	ENSP00000417241.2:p.Arg1750Gly
ENST00000470026.6:c.5251C>G	ENSP00000419274.2:p.Arg1751Gly
ENST00000473961.6:c.5125C>G	ENSP00000420201.2:p.Arg1709Gly
ENST00000476777.6:c.5245C>G	ENSP00000417554.2:p.Arg1749Gly
ENST00000477152.6:c.5173C>G	ENSP00000419988.2:p.Arg1725Gly
ENST00000478531.6:c.1939C>G	ENSP00000420412.2:p.Arg647Gly
ENST00000489037.2:c.5173C>G	ENSP00000420781.2:p.Arg1725Gly
ENST00000493919.6:c.1801C>G	ENSP00000418819.2:p.Arg601Gly
ENST00000494123.6:c.5251C>G	ENSP00000419103.2:p.Arg1751Gly
ENST00000497488.2:c.4363C>G	ENSP00000418986.2:p.Arg1455Gly
ENST00000618469.2:c.5251C>G	ENSP00000478114.2:p.Arg1751Gly
ENST00000634433.2:c.5128C>G	ENSP00000489431.2:p.Arg1710Gly
ENST00000644379.2:c.5317C>G	ENSP00000496570.2:p.Arg1773Gly
ENST00000644555.2:c.1801C>G	ENSP00000494614.2:p.Arg601Gly
ENST00000652672.2:c.5110C>G	ENSP00000498906.2:p.Arg1704Gly
ENST00000484087.6:c.1813C>G	ENSP00000419481.2:p.Arg605Gly
ENST00000357654.9:c.5251C>G MANE Select	ENSP00000350283.3:p.Arg1751Gly
ENST00000471181.7:c.5314C>G	ENSP00000418960.2:p.Arg1772Gly
ENST00000644379.1:c.1638C>G
ENST00000352993.7:c.1825C>G	ENSP00000312236.5:p.Arg609Gly
ENST00000357654.7:c.5251C>G	ENSP00000350283.3:p.Arg1751Gly
ENST00000461221.5:c.*5034C>G	ENSP00000418548.1:n.*5034C>G
ENST00000468300.5:c.1939C>G	ENSP00000417148.1:p.Arg647Gly
ENST00000471181.6:c.5314C>G	ENSP00000418960.2:p.Arg1772Gly
ENST00000491747.6:c.1939C>G	ENSP00000420705.2:p.Arg647Gly
ENST00000493795.5:c.5110C>G	ENSP00000418775.1:p.Arg1704Gly
ENST00000586385.5:c.181C>G	ENSP00000465818.1:p.Arg61Gly
ENST00000591534.5:c.724C>G	ENSP00000467329.1:p.Arg242Gly
ENST00000591849.5:c.-98-6888C>G	ENSP00000465347.1:n.-98-6888C>G
NM_007294.3:c.5251C>G , LRG_292t1:c.5251C>G	NP_009225.1:p.Arg1751Gly
NM_007297.3:c.5110C>G	NP_009228.2:p.Arg1704Gly
NM_007298.3:c.1939C>G	NP_009229.2:p.Arg647Gly
NM_007299.3:c.1939C>G	NP_009230.2:p.Arg647Gly
NM_007300.3:c.5314C>G	NP_009231.2:p.Arg1772Gly
NR_027676.1:n.5387C>G
NM_007294.4:c.5251C>G MANE Select	NP_009225.1:p.Arg1751Gly
NM_007297.4:c.5110C>G	NP_009228.2:p.Arg1704Gly
NM_007299.4:c.1939C>G	NP_009230.2:p.Arg647Gly
NM_007300.4:c.5314C>G	NP_009231.2:p.Arg1772Gly
NR_027676.2:n.5428C>G