Canonical Allele Identifier: CA003417

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 96947
• ClinVar RCV Id: RCV000083068 ; RCV000774929 ; RCV001854450
• dbSNP Id: rs431825415
• gnomAD v4: 17-43057053-T-C
• MyVariant Identifiers: chr17:g.41209070T>C (hg19) ; chr17:g.43057053T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057053T>C , CM000679.2:g.43057053T>C	GRCh38
NC_000017.10:g.41209070T>C , CM000679.1:g.41209070T>C	GRCh37
NC_000017.9:g.38462596T>C	NCBI36
NG_005905.2:g.160931A>G , LRG_292:g.160931A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5273A>G	ENSP00000417241.2:p.Lys1758Arg
ENST00000470026.6:c.5276A>G	ENSP00000419274.2:p.Lys1759Arg
ENST00000473961.6:c.5150A>G	ENSP00000420201.2:p.Lys1717Arg
ENST00000476777.6:c.5270A>G	ENSP00000417554.2:p.Lys1757Arg
ENST00000477152.6:c.5198A>G	ENSP00000419988.2:p.Lys1733Arg
ENST00000478531.6:c.1964A>G	ENSP00000420412.2:p.Lys655Arg
ENST00000489037.2:c.5198A>G	ENSP00000420781.2:p.Lys1733Arg
ENST00000493919.6:c.1826A>G	ENSP00000418819.2:p.Lys609Arg
ENST00000494123.6:c.5276A>G	ENSP00000419103.2:p.Lys1759Arg
ENST00000497488.2:c.4388A>G	ENSP00000418986.2:p.Lys1463Arg
ENST00000618469.2:c.5276A>G	ENSP00000478114.2:p.Lys1759Arg
ENST00000634433.2:c.5153A>G	ENSP00000489431.2:p.Lys1718Arg
ENST00000644379.2:c.5342A>G	ENSP00000496570.2:p.Lys1781Arg
ENST00000644555.2:c.1826A>G	ENSP00000494614.2:p.Lys609Arg
ENST00000652672.2:c.5135A>G	ENSP00000498906.2:p.Lys1712Arg
ENST00000484087.6:c.1838A>G	ENSP00000419481.2:p.Lys613Arg
ENST00000357654.9:c.5276A>G MANE Select	ENSP00000350283.3:p.Lys1759Arg
ENST00000471181.7:c.5339A>G	ENSP00000418960.2:p.Lys1780Arg
ENST00000644379.1:c.1663A>G
ENST00000352993.7:c.1850A>G	ENSP00000312236.5:p.Lys617Arg
ENST00000357654.7:c.5276A>G	ENSP00000350283.3:p.Lys1759Arg
ENST00000461221.5:c.*5059A>G	ENSP00000418548.1:n.*5059A>G
ENST00000468300.5:c.1964A>G	ENSP00000417148.1:p.Lys655Arg
ENST00000471181.6:c.5339A>G	ENSP00000418960.2:p.Lys1780Arg
ENST00000491747.6:c.1964A>G	ENSP00000420705.2:p.Lys655Arg
ENST00000493795.5:c.5135A>G	ENSP00000418775.1:p.Lys1712Arg
ENST00000586385.5:c.206A>G	ENSP00000465818.1:p.Lys69Arg
ENST00000591534.5:c.749A>G	ENSP00000467329.1:p.Lys250Arg
ENST00000591849.5:c.-98-6863A>G	ENSP00000465347.1:n.-98-6863A>G
NM_007294.3:c.5276A>G , LRG_292t1:c.5276A>G	NP_009225.1:p.Lys1759Arg
NM_007297.3:c.5135A>G	NP_009228.2:p.Lys1712Arg
NM_007298.3:c.1964A>G	NP_009229.2:p.Lys655Arg
NM_007299.3:c.1964A>G	NP_009230.2:p.Lys655Arg
NM_007300.3:c.5339A>G	NP_009231.2:p.Lys1780Arg
NR_027676.1:n.5412A>G
NM_007294.4:c.5276A>G MANE Select	NP_009225.1:p.Lys1759Arg
NM_007297.4:c.5135A>G	NP_009228.2:p.Lys1712Arg
NM_007299.4:c.1964A>G	NP_009230.2:p.Lys655Arg
NM_007300.4:c.5339A>G	NP_009231.2:p.Lys1780Arg
NR_027676.2:n.5453A>G