Canonical Allele Identifier: CA003938

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55737
• ClinVar RCV Id: RCV000238812 ; RCV001804783
• dbSNP Id: rs273902792
• MyVariant Identifiers: chr17:g.41246700A>C (hg19) ; chr17:g.43094683A>C (hg38)
• PubMed: PMID:20858050 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094683A>C , CM000679.2:g.43094683A>C	GRCh38
NC_000017.10:g.41246700A>C , CM000679.1:g.41246700A>C	GRCh37
NC_000017.9:g.38500226A>C	NCBI36
NG_005905.2:g.123301T>G , LRG_292:g.123301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.912T>G
ENST00000461574.2:c.848T>G	ENSP00000417241.2:p.Leu283Ter
ENST00000470026.6:c.848T>G	ENSP00000419274.2:p.Leu283Ter
ENST00000473961.6:c.722T>G	ENSP00000420201.2:p.Leu241Ter
ENST00000476777.6:c.845T>G	ENSP00000417554.2:p.Leu282Ter
ENST00000477152.6:c.770T>G	ENSP00000419988.2:p.Leu257Ter
ENST00000478531.6:c.784+61T>G	ENSP00000420412.2:n.784+61T>G
ENST00000489037.2:c.770T>G	ENSP00000420781.2:p.Leu257Ter
ENST00000493919.6:c.646+61T>G	ENSP00000418819.2:n.646+61T>G
ENST00000494123.6:c.848T>G	ENSP00000419103.2:p.Leu283Ter
ENST00000497488.2:c.-41T>G	ENSP00000418986.2:n.-41T>G
ENST00000618469.2:c.848T>G	ENSP00000478114.2:p.Leu283Ter
ENST00000634433.2:c.725T>G	ENSP00000489431.2:p.Leu242Ter
ENST00000644379.2:c.848T>G	ENSP00000496570.2:p.Leu283Ter
ENST00000644555.2:c.646+61T>G	ENSP00000494614.2:n.646+61T>G
ENST00000652672.2:c.707T>G	ENSP00000498906.2:p.Leu236Ter
ENST00000484087.6:c.664+61T>G	ENSP00000419481.2:n.664+61T>G
ENST00000700182.1:c.706+61T>G	ENSP00000514849.1:n.706+61T>G
ENST00000700183.1:c.*856T>G	ENSP00000514850.1:n.*856T>G
ENST00000357654.9:c.848T>G MANE Select	ENSP00000350283.3:p.Leu283Ter
ENST00000471181.7:c.848T>G	ENSP00000418960.2:p.Leu283Ter
ENST00000642945.1:c.*722T>G	ENSP00000495897.1:n.*722T>G
ENST00000652672.1:c.707T>G	ENSP00000498906.1:p.Leu236Ter
ENST00000352993.7:c.670+1163T>G	ENSP00000312236.5:n.670+1163T>G
ENST00000354071.7:c.848T>G	ENSP00000326002.7:p.Leu283Ter
ENST00000357654.7:c.848T>G	ENSP00000350283.3:p.Leu283Ter
ENST00000412061.3:c.199T>G
ENST00000461221.5:c.*631T>G	ENSP00000418548.1:n.*631T>G
ENST00000468300.5:c.787+61T>G	ENSP00000417148.1:n.787+61T>G
ENST00000470026.5:c.848T>G	ENSP00000419274.1:p.Leu283Ter
ENST00000471181.6:c.848T>G	ENSP00000418960.2:p.Leu283Ter
ENST00000473961.5:c.445T>G
ENST00000477152.5:c.770T>G	ENSP00000419988.1:p.Leu257Ter
ENST00000478531.5:c.784+61T>G	ENSP00000420412.1:n.784+61T>G
ENST00000484087.5:c.409+61T>G	ENSP00000419481.1:n.409+61T>G
ENST00000487825.5:c.412+61T>G	ENSP00000418212.1:n.412+61T>G
ENST00000491747.6:c.787+61T>G	ENSP00000420705.2:n.787+61T>G
ENST00000492859.5:c.*784T>G	ENSP00000420253.1:n.*784T>G
ENST00000493795.5:c.707T>G	ENSP00000418775.1:p.Leu236Ter
ENST00000493919.5:c.646+61T>G	ENSP00000418819.1:n.646+61T>G
ENST00000494123.5:c.848T>G	ENSP00000419103.1:p.Leu283Ter
ENST00000497488.1:c.-41T>G	ENSP00000418986.1:n.-41T>G
ENST00000586385.5:c.4+30499T>G	ENSP00000465818.1:n.4+30499T>G
ENST00000591534.5:c.-43-20162T>G	ENSP00000467329.1:n.-43-20162T>G
ENST00000591849.5:c.-99+30588T>G	ENSP00000465347.1:n.-99+30588T>G
ENST00000634433.1:c.725T>G	ENSP00000489431.1:p.Leu242Ter
NM_007294.3:c.848T>G , LRG_292t1:c.848T>G	NP_009225.1:p.Leu283Ter
NM_007297.3:c.707T>G	NP_009228.2:p.Leu236Ter
NM_007298.3:c.787+61T>G	NP_009229.2:n.787+61T>G
NM_007299.3:c.787+61T>G	NP_009230.2:n.787+61T>G
NM_007300.3:c.848T>G	NP_009231.2:p.Leu283Ter
NR_027676.1:n.984T>G
NM_007294.4:c.848T>G MANE Select	NP_009225.1:p.Leu283Ter
NM_007297.4:c.707T>G	NP_009228.2:p.Leu236Ter
NM_007299.4:c.787+61T>G	NP_009230.2:n.787+61T>G
NM_007300.4:c.848T>G	NP_009231.2:p.Leu283Ter
NR_027676.2:n.1025T>G