Canonical Allele Identifier: CA001382

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125536
• ClinVar RCV Id: RCV000111763 ; RCV000114984 ; RCV000128966 ; RCV000152868 ; RCV000322007 ; RCV000656637
• dbSNP Id: rs1799949
• ExAC: 17:41245466 G / A
• gnomAD v2: 17-41245466-G-A
• gnomAD v3: 17-43093449-G-A
• gnomAD v4: 17-43093449-G-A
• MyVariant Identifiers: chr17:g.41245466G>A (hg19) ; chr17:g.43093449G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)
• PubMed: PMID:12955716 ; PMID:16760288 ; PMID:20104584 ; PMID:21702907 ; PMID:22713736

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093449G>A , CM000679.2:g.43093449G>A	GRCh38
NC_000017.10:g.41245466G>A , CM000679.1:g.41245466G>A	GRCh37
NC_000017.9:g.38498992G>A	NCBI36
NG_005905.2:g.124535C>T , LRG_292:g.124535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2146C>T
ENST00000461574.2:c.2082C>T	ENSP00000417241.2:p.Ser694=
ENST00000470026.6:c.2082C>T	ENSP00000419274.2:p.Ser694=
ENST00000473961.6:c.1956C>T	ENSP00000420201.2:p.Ser652=
ENST00000476777.6:c.2079C>T	ENSP00000417554.2:p.Ser693=
ENST00000477152.6:c.2004C>T	ENSP00000419988.2:p.Ser668=
ENST00000478531.6:c.784+1295C>T	ENSP00000420412.2:n.784+1295C>T
ENST00000489037.2:c.2004C>T	ENSP00000420781.2:p.Ser668=
ENST00000493919.6:c.646+1295C>T	ENSP00000418819.2:n.646+1295C>T
ENST00000494123.6:c.2082C>T	ENSP00000419103.2:p.Ser694=
ENST00000497488.2:c.1194C>T	ENSP00000418986.2:p.Ser398=
ENST00000618469.2:c.2082C>T	ENSP00000478114.2:p.Ser694=
ENST00000634433.2:c.1959C>T	ENSP00000489431.2:p.Ser653=
ENST00000644379.2:c.2082C>T	ENSP00000496570.2:p.Ser694=
ENST00000644555.2:c.646+1295C>T	ENSP00000494614.2:n.646+1295C>T
ENST00000652672.2:c.1941C>T	ENSP00000498906.2:p.Ser647=
ENST00000484087.6:c.664+1295C>T	ENSP00000419481.2:n.664+1295C>T
ENST00000700182.1:c.706+1295C>T	ENSP00000514849.1:n.706+1295C>T
ENST00000357654.9:c.2082C>T MANE Select	ENSP00000350283.3:p.Ser694=
ENST00000471181.7:c.2082C>T	ENSP00000418960.2:p.Ser694=
ENST00000352993.7:c.670+2397C>T	ENSP00000312236.5:n.670+2397C>T
ENST00000354071.7:c.2082C>T	ENSP00000326002.7:p.Ser694=
ENST00000357654.7:c.2082C>T	ENSP00000350283.3:p.Ser694=
ENST00000461221.5:c.*1865C>T	ENSP00000418548.1:n.*1865C>T
ENST00000468300.5:c.787+1295C>T	ENSP00000417148.1:n.787+1295C>T
ENST00000471181.6:c.2082C>T	ENSP00000418960.2:p.Ser694=
ENST00000478531.5:c.784+1295C>T	ENSP00000420412.1:n.784+1295C>T
ENST00000484087.5:c.409+1295C>T	ENSP00000419481.1:n.409+1295C>T
ENST00000487825.5:c.412+1295C>T	ENSP00000418212.1:n.412+1295C>T
ENST00000491747.6:c.787+1295C>T	ENSP00000420705.2:n.787+1295C>T
ENST00000493795.5:c.1941C>T	ENSP00000418775.1:p.Ser647=
ENST00000493919.5:c.646+1295C>T	ENSP00000418819.1:n.646+1295C>T
ENST00000586385.5:c.5-29498C>T	ENSP00000465818.1:n.5-29498C>T
ENST00000591534.5:c.-43-18928C>T	ENSP00000467329.1:n.-43-18928C>T
ENST00000591849.5:c.-99+31822C>T	ENSP00000465347.1:n.-99+31822C>T
ENST00000634433.1:c.1959C>T	ENSP00000489431.1:p.Ser653=
NM_007294.3:c.2082C>T , LRG_292t1:c.2082C>T	NP_009225.1:p.Ser694=
NM_007297.3:c.1941C>T	NP_009228.2:p.Ser647=
NM_007298.3:c.787+1295C>T	NP_009229.2:n.787+1295C>T
NM_007299.3:c.787+1295C>T	NP_009230.2:n.787+1295C>T
NM_007300.3:c.2082C>T	NP_009231.2:p.Ser694=
NR_027676.1:n.2218C>T
NM_007294.4:c.2082C>T MANE Select	NP_009225.1:p.Ser694=
NM_007297.4:c.1941C>T	NP_009228.2:p.Ser647=
NM_007299.4:c.787+1295C>T	NP_009230.2:n.787+1295C>T
NM_007300.4:c.2082C>T	NP_009231.2:p.Ser694=
NR_027676.2:n.2259C>T