Canonical Allele Identifier: CA10584556

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 245779
• ClinVar RCV Id: RCV000235934 ; RCV000813246 ; RCV001022118
• dbSNP Id: rs878854951
• MyVariant Identifiers: chr17:g.41234537A>C (hg19) ; chr17:g.43082520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082520A>C , CM000679.2:g.43082520A>C	GRCh38
NC_000017.10:g.41234537A>C , CM000679.1:g.41234537A>C	GRCh37
NC_000017.9:g.38488063A>C	NCBI36
NG_005905.2:g.135464T>G , LRG_292:g.135464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4241T>G	ENSP00000417241.2:p.Leu1414Arg
ENST00000470026.6:c.4241T>G	ENSP00000419274.2:p.Leu1414Arg
ENST00000473961.6:c.4115T>G	ENSP00000420201.2:p.Leu1372Arg
ENST00000476777.6:c.4235T>G	ENSP00000417554.2:p.Leu1412Arg
ENST00000477152.6:c.4163T>G	ENSP00000419988.2:p.Leu1388Arg
ENST00000478531.6:c.929T>G	ENSP00000420412.2:p.Leu310Arg
ENST00000489037.2:c.4163T>G	ENSP00000420781.2:p.Leu1388Arg
ENST00000493919.6:c.791T>G	ENSP00000418819.2:p.Leu264Arg
ENST00000494123.6:c.4241T>G	ENSP00000419103.2:p.Leu1414Arg
ENST00000497488.2:c.3353T>G	ENSP00000418986.2:p.Leu1118Arg
ENST00000618469.2:c.4241T>G	ENSP00000478114.2:p.Leu1414Arg
ENST00000634433.2:c.4118T>G	ENSP00000489431.2:p.Leu1373Arg
ENST00000644379.2:c.4241T>G	ENSP00000496570.2:p.Leu1414Arg
ENST00000644555.2:c.791T>G	ENSP00000494614.2:p.Leu264Arg
ENST00000652672.2:c.4100T>G	ENSP00000498906.2:p.Leu1367Arg
ENST00000484087.6:c.806T>G	ENSP00000419481.2:p.Leu269Arg
ENST00000700182.1:c.851T>G	ENSP00000514849.1:p.Leu284Arg
ENST00000357654.9:c.4241T>G MANE Select	ENSP00000350283.3:p.Leu1414Arg
ENST00000471181.7:c.4241T>G	ENSP00000418960.2:p.Leu1414Arg
ENST00000644379.1:c.562T>G
ENST00000352993.7:c.815T>G	ENSP00000312236.5:p.Leu272Arg
ENST00000357654.7:c.4241T>G	ENSP00000350283.3:p.Leu1414Arg
ENST00000461221.5:c.*4024T>G	ENSP00000418548.1:n.*4024T>G
ENST00000461574.1:c.535T>G
ENST00000468300.5:c.932T>G	ENSP00000417148.1:p.Leu311Arg
ENST00000471181.6:c.4241T>G	ENSP00000418960.2:p.Leu1414Arg
ENST00000478531.5:c.929T>G	ENSP00000420412.1:p.Leu310Arg
ENST00000484087.5:c.554T>G	ENSP00000419481.1:p.Leu185Arg
ENST00000487825.5:c.557T>G	ENSP00000418212.1:p.Leu186Arg
ENST00000491747.6:c.932T>G	ENSP00000420705.2:p.Leu311Arg
ENST00000493795.5:c.4100T>G	ENSP00000418775.1:p.Leu1367Arg
ENST00000493919.5:c.791T>G	ENSP00000418819.1:p.Leu264Arg
ENST00000586385.5:c.5-18569T>G	ENSP00000465818.1:n.5-18569T>G
ENST00000591534.5:c.-43-7999T>G	ENSP00000467329.1:n.-43-7999T>G
ENST00000591849.5:c.-98-32330T>G	ENSP00000465347.1:n.-98-32330T>G
ENST00000621897.1:n.135T>G
NM_007294.3:c.4241T>G , LRG_292t1:c.4241T>G	NP_009225.1:p.Leu1414Arg
NM_007297.3:c.4100T>G	NP_009228.2:p.Leu1367Arg
NM_007298.3:c.932T>G	NP_009229.2:p.Leu311Arg
NM_007299.3:c.932T>G	NP_009230.2:p.Leu311Arg
NM_007300.3:c.4241T>G	NP_009231.2:p.Leu1414Arg
NR_027676.1:n.4377T>G
NM_007294.4:c.4241T>G MANE Select	NP_009225.1:p.Leu1414Arg
NM_007297.4:c.4100T>G	NP_009228.2:p.Leu1367Arg
NM_007299.4:c.932T>G	NP_009230.2:p.Leu311Arg
NM_007300.4:c.4241T>G	NP_009231.2:p.Leu1414Arg
NR_027676.2:n.4418T>G