Canonical Allele Identifier: CA002873

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37596
• ClinVar RCV Id: RCV000031177 ; RCV000048572 ; RCV000573576 ; RCV000521426 ; RCV000585660 ; RCV001354007
• dbSNP Id: rs80358063
• MyVariant Identifiers: chr17:g.41228504C>T (hg19) ; chr17:g.43076487C>T (hg38)
• PubMed: PMID:12673801 ; PMID:17997147 ; PMID:22505045 ; PMID:22752604 ; PMID:24667779 ; PMID:25525159 ; PMID:26843898 ; PMID:26911350

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076487C>T , CM000679.2:g.43076487C>T	GRCh38
NC_000017.10:g.41228504C>T , CM000679.1:g.41228504C>T	GRCh37
NC_000017.9:g.38482030C>T	NCBI36
NG_005905.2:g.141497G>A , LRG_292:g.141497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4481+1G>A	ENSP00000417241.2:n.4481+1G>A
ENST00000470026.6:c.4484+1G>A	ENSP00000419274.2:n.4484+1G>A
ENST00000473961.6:c.4358+1G>A	ENSP00000420201.2:n.4358+1G>A
ENST00000476777.6:c.4478+1G>A	ENSP00000417554.2:n.4478+1G>A
ENST00000477152.6:c.4406+1G>A	ENSP00000419988.2:n.4406+1G>A
ENST00000478531.6:c.1172+1G>A	ENSP00000420412.2:n.1172+1G>A
ENST00000489037.2:c.4406+1G>A	ENSP00000420781.2:n.4406+1G>A
ENST00000493919.6:c.1034+1G>A	ENSP00000418819.2:n.1034+1G>A
ENST00000494123.6:c.4484+1G>A	ENSP00000419103.2:n.4484+1G>A
ENST00000497488.2:c.3596+1G>A	ENSP00000418986.2:n.3596+1G>A
ENST00000618469.2:c.4484+1G>A	ENSP00000478114.2:n.4484+1G>A
ENST00000634433.2:c.4361+1G>A	ENSP00000489431.2:n.4361+1G>A
ENST00000644379.2:c.4550+1G>A	ENSP00000496570.2:n.4550+1G>A
ENST00000644555.2:c.1034+1G>A	ENSP00000494614.2:n.1034+1G>A
ENST00000652672.2:c.4343+1G>A	ENSP00000498906.2:n.4343+1G>A
ENST00000484087.6:c.1046+1G>A	ENSP00000419481.2:n.1046+1G>A
ENST00000700182.1:c.1091+1G>A	ENSP00000514849.1:n.1091+1G>A
ENST00000357654.9:c.4484+1G>A MANE Select	ENSP00000350283.3:n.4484+1G>A
ENST00000471181.7:c.4547+1G>A	ENSP00000418960.2:n.4547+1G>A
ENST00000644379.1:c.871+1G>A
ENST00000352993.7:c.1058+1G>A	ENSP00000312236.5:n.1058+1G>A
ENST00000357654.7:c.4484+1G>A	ENSP00000350283.3:n.4484+1G>A
ENST00000461221.5:c.*4267+1G>A	ENSP00000418548.1:n.*4267+1G>A
ENST00000468300.5:c.1172+1G>A	ENSP00000417148.1:n.1172+1G>A
ENST00000471181.6:c.4547+1G>A	ENSP00000418960.2:n.4547+1G>A
ENST00000478531.5:c.1172+1G>A	ENSP00000420412.1:n.1172+1G>A
ENST00000484087.5:c.797+1G>A	ENSP00000419481.1:n.797+1G>A
ENST00000491747.6:c.1172+1G>A	ENSP00000420705.2:n.1172+1G>A
ENST00000493795.5:c.4343+1G>A	ENSP00000418775.1:n.4343+1G>A
ENST00000493919.5:c.1034+1G>A	ENSP00000418819.1:n.1034+1G>A
ENST00000586385.5:c.5-12536G>A	ENSP00000465818.1:n.5-12536G>A
ENST00000591534.5:c.-43-1966G>A	ENSP00000467329.1:n.-43-1966G>A
ENST00000591849.5:c.-98-26297G>A	ENSP00000465347.1:n.-98-26297G>A
NM_007294.3:c.4484+1G>A , LRG_292t1:c.4484+1G>A	NP_009225.1:n.4484+1G>A
NM_007297.3:c.4343+1G>A	NP_009228.2:n.4343+1G>A
NM_007298.3:c.1172+1G>A	NP_009229.2:n.1172+1G>A
NM_007299.3:c.1172+1G>A	NP_009230.2:n.1172+1G>A
NM_007300.3:c.4547+1G>A	NP_009231.2:n.4547+1G>A
NR_027676.1:n.4620+1G>A
NM_007294.4:c.4484+1G>A MANE Select	NP_009225.1:n.4484+1G>A
NM_007297.4:c.4343+1G>A	NP_009228.2:n.4343+1G>A
NM_007299.4:c.1172+1G>A	NP_009230.2:n.1172+1G>A
NM_007300.4:c.4547+1G>A	NP_009231.2:n.4547+1G>A
NR_027676.2:n.4661+1G>A