Canonical Allele Identifier: CA001182

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17661
• ClinVar RCV Id: RCV000019229 ; RCV000047597 ; RCV000131902 ; RCV000159935 ; RCV000239114 ; RCV000412714 ; RCV000415051 ; RCV000763010 ; RCV000785199
• dbSNP Id: rs28897672
• ExAC: 17:41258504 A / C
• gnomAD v2: 17-41258504-A-C
• gnomAD v3: 17-43106487-A-C
• gnomAD v4: 17-43106487-A-C
• MyVariant Identifiers: chr17:g.41258504A>C (hg19) ; chr17:g.43106487A>C (hg38)
• CIViC: CA001182
• PubMed: PMID:7795652 ; PMID:7894493 ; PMID:8944023 ; PMID:9159158 ; PMID:9525870 ; PMID:10788334 ; PMID:10945975 ; PMID:11320250 ; PMID:11389159 ; PMID:12601471 ; PMID:12732733 ; PMID:12810666 ; PMID:12938098 ; PMID:14976165 ; PMID:15024741 ; PMID:15235020 ; PMID:15290653 ; PMID:15383404 ; PMID:15569676 ; PMID:16168118 ; PMID:16227521 ; PMID:16403807 ; PMID:18680205 ; PMID:19543972 ; PMID:19770520 ; PMID:20103620 ; PMID:20345474 ; PMID:20507347 ; PMID:20569256 ; PMID:20683152 ; PMID:21324516 ; PMID:21503673 ; PMID:21520273 ; PMID:21922593 ; PMID:21965345 ; PMID:21990134 ; PMID:21990165 ; PMID:22172724 ; PMID:23161852 ; PMID:23199084 ; PMID:23469205 ; PMID:23867111 ; PMID:23891399 ; PMID:24884479 ; PMID:25525159 ; PMID:25782689 ; PMID:26295337 ; PMID:26463832 ; PMID:27153395 ; PMID:27433846

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43106487A>C , CM000679.2:g.43106487A>C	GRCh38
NC_000017.10:g.41258504A>C , CM000679.1:g.41258504A>C	GRCh37
NC_000017.9:g.38512030A>C	NCBI36
NG_005905.2:g.111497T>G , LRG_292:g.111497T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.245T>G
ENST00000461574.2:c.181T>G	ENSP00000417241.2:p.Cys61Gly
ENST00000470026.6:c.181T>G	ENSP00000419274.2:p.Cys61Gly
ENST00000473961.6:c.181T>G	ENSP00000420201.2:p.Cys61Gly
ENST00000476777.6:c.181T>G	ENSP00000417554.2:p.Cys61Gly
ENST00000477152.6:c.135-1531T>G	ENSP00000419988.2:n.135-1531T>G
ENST00000478531.6:c.181T>G	ENSP00000420412.2:p.Cys61Gly
ENST00000489037.2:c.135-1531T>G	ENSP00000420781.2:n.135-1531T>G
ENST00000493919.6:c.40T>G	ENSP00000418819.2:p.Cys14Gly
ENST00000494123.6:c.181T>G	ENSP00000419103.2:p.Cys61Gly
ENST00000497488.2:c.-218-11627T>G	ENSP00000418986.2:n.-218-11627T>G
ENST00000618469.2:c.181T>G	ENSP00000478114.2:p.Cys61Gly
ENST00000634433.2:c.181T>G	ENSP00000489431.2:p.Cys61Gly
ENST00000644379.2:c.181T>G	ENSP00000496570.2:p.Cys61Gly
ENST00000644555.2:c.40T>G	ENSP00000494614.2:p.Cys14Gly
ENST00000652672.2:c.40T>G	ENSP00000498906.2:p.Cys14Gly
ENST00000484087.6:c.181T>G	ENSP00000419481.2:p.Cys61Gly
ENST00000700182.1:c.135-1531T>G	ENSP00000514849.1:n.135-1531T>G
ENST00000700183.1:c.*117T>G	ENSP00000514850.1:n.*117T>G
ENST00000700184.1:n.424T>G
ENST00000357654.9:c.181T>G MANE Select	ENSP00000350283.3:p.Cys61Gly
ENST00000471181.7:c.181T>G	ENSP00000418960.2:p.Cys61Gly
ENST00000642945.1:c.*55T>G	ENSP00000495897.1:n.*55T>G
ENST00000644555.1:c.40T>G	ENSP00000494614.1:p.Cys14Gly
ENST00000652672.1:c.40T>G	ENSP00000498906.1:p.Cys14Gly
ENST00000352993.7:c.181T>G	ENSP00000312236.5:p.Cys61Gly
ENST00000354071.7:c.181T>G	ENSP00000326002.7:p.Cys61Gly
ENST00000357654.7:c.181T>G	ENSP00000350283.3:p.Cys61Gly
ENST00000461221.5:c.181T>G	ENSP00000418548.1:p.Cys61Gly
ENST00000461798.5:c.181T>G	ENSP00000417988.1:p.Cys61Gly
ENST00000468300.5:c.181T>G	ENSP00000417148.1:p.Cys61Gly
ENST00000470026.5:c.181T>G	ENSP00000419274.1:p.Cys61Gly
ENST00000471181.6:c.181T>G	ENSP00000418960.2:p.Cys61Gly
ENST00000476777.5:c.181T>G	ENSP00000417554.1:p.Cys61Gly
ENST00000477152.5:c.135-1531T>G	ENSP00000419988.1:n.135-1531T>G
ENST00000478531.5:c.181T>G	ENSP00000420412.1:p.Cys61Gly
ENST00000489037.1:c.135-1531T>G	ENSP00000420781.1:n.135-1531T>G
ENST00000491747.6:c.181T>G	ENSP00000420705.2:p.Cys61Gly
ENST00000492859.5:c.*117T>G	ENSP00000420253.1:n.*117T>G
ENST00000493795.5:c.40T>G	ENSP00000418775.1:p.Cys14Gly
ENST00000493919.5:c.40T>G	ENSP00000418819.1:p.Cys14Gly
ENST00000494123.5:c.181T>G	ENSP00000419103.1:p.Cys61Gly
ENST00000497488.1:c.-218-11627T>G	ENSP00000418986.1:n.-218-11627T>G
ENST00000586385.5:c.4+18695T>G	ENSP00000465818.1:n.4+18695T>G
ENST00000591534.5:c.-44+18784T>G	ENSP00000467329.1:n.-44+18784T>G
ENST00000591849.5:c.-99+18784T>G	ENSP00000465347.1:n.-99+18784T>G
ENST00000634433.1:c.181T>G	ENSP00000489431.1:p.Cys61Gly
NM_007294.3:c.181T>G , LRG_292t1:c.181T>G	NP_009225.1:p.Cys61Gly
NM_007297.3:c.40T>G	NP_009228.2:p.Cys14Gly
NM_007298.3:c.181T>G	NP_009229.2:p.Cys61Gly
NM_007299.3:c.181T>G	NP_009230.2:p.Cys61Gly
NM_007300.3:c.181T>G	NP_009231.2:p.Cys61Gly
NR_027676.1:n.342T>G
NM_007294.4:c.181T>G MANE Select	NP_009225.1:p.Cys61Gly
NM_007297.4:c.40T>G	NP_009228.2:p.Cys14Gly
NM_007299.4:c.181T>G	NP_009230.2:p.Cys61Gly
NM_007300.4:c.181T>G	NP_009231.2:p.Cys61Gly
NR_027676.2:n.383T>G