Canonical Allele Identifier: CA002520

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185302
• ClinVar RCV Id: RCV000164698
• dbSNP Id: rs786202068
• MyVariant Identifiers: chr17:g.41243630C>G (hg19) ; chr17:g.43091613C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091613C>G , CM000679.2:g.43091613C>G	GRCh38
NC_000017.10:g.41243630C>G , CM000679.1:g.41243630C>G	GRCh37
NC_000017.9:g.38497156C>G	NCBI36
NG_005905.2:g.126371G>C , LRG_292:g.126371G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3982G>C
ENST00000461574.2:c.3918G>C	ENSP00000417241.2:p.Leu1306Phe
ENST00000470026.6:c.3918G>C	ENSP00000419274.2:p.Leu1306Phe
ENST00000473961.6:c.3792G>C	ENSP00000420201.2:p.Leu1264Phe
ENST00000476777.6:c.3915G>C	ENSP00000417554.2:p.Leu1305Phe
ENST00000477152.6:c.3840G>C	ENSP00000419988.2:p.Leu1280Phe
ENST00000478531.6:c.785-581G>C	ENSP00000420412.2:n.785-581G>C
ENST00000489037.2:c.3840G>C	ENSP00000420781.2:p.Leu1280Phe
ENST00000493919.6:c.647-581G>C	ENSP00000418819.2:n.647-581G>C
ENST00000494123.6:c.3918G>C	ENSP00000419103.2:p.Leu1306Phe
ENST00000497488.2:c.3030G>C	ENSP00000418986.2:p.Leu1010Phe
ENST00000618469.2:c.3918G>C	ENSP00000478114.2:p.Leu1306Phe
ENST00000634433.2:c.3795G>C	ENSP00000489431.2:p.Leu1265Phe
ENST00000644379.2:c.3918G>C	ENSP00000496570.2:p.Leu1306Phe
ENST00000644555.2:c.647-581G>C	ENSP00000494614.2:n.647-581G>C
ENST00000652672.2:c.3777G>C	ENSP00000498906.2:p.Leu1259Phe
ENST00000484087.6:c.665-581G>C	ENSP00000419481.2:n.665-581G>C
ENST00000700182.1:c.707-581G>C	ENSP00000514849.1:n.707-581G>C
ENST00000357654.9:c.3918G>C MANE Select	ENSP00000350283.3:p.Leu1306Phe
ENST00000471181.7:c.3918G>C	ENSP00000418960.2:p.Leu1306Phe
ENST00000644379.1:c.239G>C
ENST00000352993.7:c.671-581G>C	ENSP00000312236.5:n.671-581G>C
ENST00000354071.7:c.3918G>C	ENSP00000326002.7:p.Leu1306Phe
ENST00000357654.7:c.3918G>C	ENSP00000350283.3:p.Leu1306Phe
ENST00000461221.5:c.*3701G>C	ENSP00000418548.1:n.*3701G>C
ENST00000461574.1:c.212G>C
ENST00000468300.5:c.788-581G>C	ENSP00000417148.1:n.788-581G>C
ENST00000471181.6:c.3918G>C	ENSP00000418960.2:p.Leu1306Phe
ENST00000478531.5:c.785-581G>C	ENSP00000420412.1:n.785-581G>C
ENST00000484087.5:c.410-581G>C	ENSP00000419481.1:n.410-581G>C
ENST00000487825.5:c.413-581G>C	ENSP00000418212.1:n.413-581G>C
ENST00000491747.6:c.788-581G>C	ENSP00000420705.2:n.788-581G>C
ENST00000493795.5:c.3777G>C	ENSP00000418775.1:p.Leu1259Phe
ENST00000493919.5:c.647-581G>C	ENSP00000418819.1:n.647-581G>C
ENST00000586385.5:c.5-27662G>C	ENSP00000465818.1:n.5-27662G>C
ENST00000591534.5:c.-43-17092G>C	ENSP00000467329.1:n.-43-17092G>C
ENST00000591849.5:c.-99+33658G>C	ENSP00000465347.1:n.-99+33658G>C
NM_007294.3:c.3918G>C , LRG_292t1:c.3918G>C	NP_009225.1:p.Leu1306Phe
NM_007297.3:c.3777G>C	NP_009228.2:p.Leu1259Phe
NM_007298.3:c.788-581G>C	NP_009229.2:n.788-581G>C
NM_007299.3:c.788-581G>C	NP_009230.2:n.788-581G>C
NM_007300.3:c.3918G>C	NP_009231.2:p.Leu1306Phe
NR_027676.1:n.4054G>C
NM_007294.4:c.3918G>C MANE Select	NP_009225.1:p.Leu1306Phe
NM_007297.4:c.3777G>C	NP_009228.2:p.Leu1259Phe
NM_007299.4:c.788-581G>C	NP_009230.2:n.788-581G>C
NM_007300.4:c.3918G>C	NP_009231.2:p.Leu1306Phe
NR_027676.2:n.4095G>C