Canonical Allele Identifier: CA002575

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37561
• ClinVar RCV Id: RCV000031142 ; RCV000048414 ; RCV000164474 ; RCV000590201 ; RCV001081659
• dbSNP Id: rs80357407
• ExAC: 17:41243512 C / T
• gnomAD v2: 17-41243512-C-T
• gnomAD v3: 17-43091495-C-T
• gnomAD v4: 17-43091495-C-T
• COSMIC: COSM6019339
• MyVariant Identifiers: chr17:g.41243512C>T (hg19) ; chr17:g.41243512_41243513delinsTT (hg19) ; chr17:g.43091495C>T (hg38) ; chr17:g.43091495_43091496delinsTT (hg38)
• PubMed: PMID:9150149 ; PMID:10644434 ; PMID:10923033 ; PMID:15235020 ; PMID:15385441 ; PMID:16267036 ; PMID:18273839 ; PMID:21203900 ; PMID:23704879 ; PMID:23867111 ; PMID:25948282

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091495C>T , CM000679.2:g.43091495C>T	GRCh38
NC_000017.10:g.41243512C>T , CM000679.1:g.41243512C>T	GRCh37
NC_000017.9:g.38497038C>T	NCBI36
NG_005905.2:g.126489G>A , LRG_292:g.126489G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4100G>A
ENST00000461574.2:c.4036G>A	ENSP00000417241.2:p.Glu1346Lys
ENST00000470026.6:c.4036G>A	ENSP00000419274.2:p.Glu1346Lys
ENST00000473961.6:c.3910G>A	ENSP00000420201.2:p.Glu1304Lys
ENST00000476777.6:c.4033G>A	ENSP00000417554.2:p.Glu1345Lys
ENST00000477152.6:c.3958G>A	ENSP00000419988.2:p.Glu1320Lys
ENST00000478531.6:c.785-463G>A	ENSP00000420412.2:n.785-463G>A
ENST00000489037.2:c.3958G>A	ENSP00000420781.2:p.Glu1320Lys
ENST00000493919.6:c.647-463G>A	ENSP00000418819.2:n.647-463G>A
ENST00000494123.6:c.4036G>A	ENSP00000419103.2:p.Glu1346Lys
ENST00000497488.2:c.3148G>A	ENSP00000418986.2:p.Glu1050Lys
ENST00000618469.2:c.4036G>A	ENSP00000478114.2:p.Glu1346Lys
ENST00000634433.2:c.3913G>A	ENSP00000489431.2:p.Glu1305Lys
ENST00000644379.2:c.4036G>A	ENSP00000496570.2:p.Glu1346Lys
ENST00000644555.2:c.647-463G>A	ENSP00000494614.2:n.647-463G>A
ENST00000652672.2:c.3895G>A	ENSP00000498906.2:p.Glu1299Lys
ENST00000484087.6:c.665-463G>A	ENSP00000419481.2:n.665-463G>A
ENST00000700182.1:c.707-463G>A	ENSP00000514849.1:n.707-463G>A
ENST00000357654.9:c.4036G>A MANE Select	ENSP00000350283.3:p.Glu1346Lys
ENST00000471181.7:c.4036G>A	ENSP00000418960.2:p.Glu1346Lys
ENST00000644379.1:c.357G>A
ENST00000352993.7:c.671-463G>A	ENSP00000312236.5:n.671-463G>A
ENST00000354071.7:c.4036G>A	ENSP00000326002.7:p.Glu1346Lys
ENST00000357654.7:c.4036G>A	ENSP00000350283.3:p.Glu1346Lys
ENST00000461221.5:c.*3819G>A	ENSP00000418548.1:n.*3819G>A
ENST00000461574.1:c.330G>A
ENST00000468300.5:c.788-463G>A	ENSP00000417148.1:n.788-463G>A
ENST00000471181.6:c.4036G>A	ENSP00000418960.2:p.Glu1346Lys
ENST00000478531.5:c.785-463G>A	ENSP00000420412.1:n.785-463G>A
ENST00000484087.5:c.410-463G>A	ENSP00000419481.1:n.410-463G>A
ENST00000487825.5:c.413-463G>A	ENSP00000418212.1:n.413-463G>A
ENST00000491747.6:c.788-463G>A	ENSP00000420705.2:n.788-463G>A
ENST00000493795.5:c.3895G>A	ENSP00000418775.1:p.Glu1299Lys
ENST00000493919.5:c.647-463G>A	ENSP00000418819.1:n.647-463G>A
ENST00000586385.5:c.5-27544G>A	ENSP00000465818.1:n.5-27544G>A
ENST00000591534.5:c.-43-16974G>A	ENSP00000467329.1:n.-43-16974G>A
ENST00000591849.5:c.-99+33776G>A	ENSP00000465347.1:n.-99+33776G>A
NM_007294.3:c.4036G>A , LRG_292t1:c.4036G>A	NP_009225.1:p.Glu1346Lys
NM_007297.3:c.3895G>A	NP_009228.2:p.Glu1299Lys
NM_007298.3:c.788-463G>A	NP_009229.2:n.788-463G>A
NM_007299.3:c.788-463G>A	NP_009230.2:n.788-463G>A
NM_007300.3:c.4036G>A	NP_009231.2:p.Glu1346Lys
NR_027676.1:n.4172G>A
NM_007294.4:c.4036G>A MANE Select	NP_009225.1:p.Glu1346Lys
NM_007297.4:c.3895G>A	NP_009228.2:p.Glu1299Lys
NM_007299.4:c.788-463G>A	NP_009230.2:n.788-463G>A
NM_007300.4:c.4036G>A	NP_009231.2:p.Glu1346Lys
NR_027676.2:n.4213G>A