Canonical Allele Identifier: CA10592234

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 496386
• ClinVar RCV Id: RCV001218897 ; RCV001294026
• dbSNP Id: rs730881492
• MyVariant Identifiers: chr17:g.41226384A>C (hg19) ; chr17:g.43074367A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074367A>C , CM000679.2:g.43074367A>C	GRCh38
NC_000017.10:g.41226384A>C , CM000679.1:g.41226384A>C	GRCh37
NC_000017.9:g.38479910A>C	NCBI36
NG_005905.2:g.143617T>G , LRG_292:g.143617T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4636T>G	ENSP00000417241.2:p.Leu1546Val
ENST00000470026.6:c.4639T>G	ENSP00000419274.2:p.Leu1547Val
ENST00000473961.6:c.4513T>G	ENSP00000420201.2:p.Leu1505Val
ENST00000476777.6:c.4633T>G	ENSP00000417554.2:p.Leu1545Val
ENST00000477152.6:c.4561T>G	ENSP00000419988.2:p.Leu1521Val
ENST00000478531.6:c.1327T>G	ENSP00000420412.2:p.Leu443Val
ENST00000489037.2:c.4561T>G	ENSP00000420781.2:p.Leu1521Val
ENST00000493919.6:c.1189T>G	ENSP00000418819.2:p.Leu397Val
ENST00000494123.6:c.4639T>G	ENSP00000419103.2:p.Leu1547Val
ENST00000497488.2:c.3751T>G	ENSP00000418986.2:p.Leu1251Val
ENST00000618469.2:c.4639T>G	ENSP00000478114.2:p.Leu1547Val
ENST00000634433.2:c.4516T>G	ENSP00000489431.2:p.Leu1506Val
ENST00000644379.2:c.4705T>G	ENSP00000496570.2:p.Leu1569Val
ENST00000644555.2:c.1189T>G	ENSP00000494614.2:p.Leu397Val
ENST00000652672.2:c.4498T>G	ENSP00000498906.2:p.Leu1500Val
ENST00000484087.6:c.1201T>G	ENSP00000419481.2:p.Leu401Val
ENST00000700182.1:c.1246T>G	ENSP00000514849.1:p.Leu416Val
ENST00000357654.9:c.4639T>G MANE Select	ENSP00000350283.3:p.Leu1547Val
ENST00000471181.7:c.4702T>G	ENSP00000418960.2:p.Leu1568Val
ENST00000644379.1:c.1026T>G
ENST00000352993.7:c.1213T>G	ENSP00000312236.5:p.Leu405Val
ENST00000357654.7:c.4639T>G	ENSP00000350283.3:p.Leu1547Val
ENST00000461221.5:c.*4422T>G	ENSP00000418548.1:n.*4422T>G
ENST00000468300.5:c.1327T>G	ENSP00000417148.1:p.Leu443Val
ENST00000471181.6:c.4702T>G	ENSP00000418960.2:p.Leu1568Val
ENST00000478531.5:c.1327T>G	ENSP00000420412.1:p.Leu443Val
ENST00000484087.5:c.952T>G	ENSP00000419481.1:p.Leu318Val
ENST00000491747.6:c.1327T>G	ENSP00000420705.2:p.Leu443Val
ENST00000493795.5:c.4498T>G	ENSP00000418775.1:p.Leu1500Val
ENST00000493919.5:c.1189T>G	ENSP00000418819.1:p.Leu397Val
ENST00000586385.5:c.5-10416T>G	ENSP00000465818.1:n.5-10416T>G
ENST00000591534.5:c.112T>G	ENSP00000467329.1:p.Leu38Val
ENST00000591849.5:c.-98-24177T>G	ENSP00000465347.1:n.-98-24177T>G
NM_007294.3:c.4639T>G , LRG_292t1:c.4639T>G	NP_009225.1:p.Leu1547Val
NM_007297.3:c.4498T>G	NP_009228.2:p.Leu1500Val
NM_007298.3:c.1327T>G	NP_009229.2:p.Leu443Val
NM_007299.3:c.1327T>G	NP_009230.2:p.Leu443Val
NM_007300.3:c.4702T>G	NP_009231.2:p.Leu1568Val
NR_027676.1:n.4775T>G
NM_007294.4:c.4639T>G MANE Select	NP_009225.1:p.Leu1547Val
NM_007297.4:c.4498T>G	NP_009228.2:p.Leu1500Val
NM_007299.4:c.1327T>G	NP_009230.2:p.Leu443Val
NM_007300.4:c.4702T>G	NP_009231.2:p.Leu1568Val
NR_027676.2:n.4816T>G