Canonical Allele Identifier: CA003390

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55481
• ClinVar RCV Id: RCV000112579 ; RCV000148392 ; RCV000162992 ; RCV000168520 ; RCV000759558 ; RCV001085532
• dbSNP Id: rs80357442
• ExAC: 17:41209094 C / T
• gnomAD v2: 17-41209094-C-T
• gnomAD v3: 17-43057077-C-T
• gnomAD v4: 17-43057077-C-T
• MyVariant Identifiers: chr17:g.41209094C>T (hg19) ; chr17:g.43057077C>T (hg38)
• PubMed: PMID:8602198 ; PMID:9150149 ; PMID:11877378 ; PMID:11927492 ; PMID:12360411 ; PMID:14534301 ; PMID:15133503 ; PMID:15172985 ; PMID:15350310 ; PMID:16267036 ; PMID:16528612 ; PMID:17305420 ; PMID:17924331 ; PMID:18528753 ; PMID:19471317 ; PMID:20378548 ; PMID:20516115 ; PMID:20614009 ; PMID:21447777 ; PMID:21990134 ; PMID:22753008 ; PMID:24055113 ; PMID:25637381 ; PMID:25782689 ; PMID:27272900 ; PMID:27484786 ; PMID:27802165

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057077C>T , CM000679.2:g.43057077C>T	GRCh38
NC_000017.10:g.41209094C>T , CM000679.1:g.41209094C>T	GRCh37
NC_000017.9:g.38462620C>T	NCBI36
NG_005905.2:g.160907G>A , LRG_292:g.160907G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5249G>A	ENSP00000417241.2:p.Arg1750Gln
ENST00000470026.6:c.5252G>A	ENSP00000419274.2:p.Arg1751Gln
ENST00000473961.6:c.5126G>A	ENSP00000420201.2:p.Arg1709Gln
ENST00000476777.6:c.5246G>A	ENSP00000417554.2:p.Arg1749Gln
ENST00000477152.6:c.5174G>A	ENSP00000419988.2:p.Arg1725Gln
ENST00000478531.6:c.1940G>A	ENSP00000420412.2:p.Arg647Gln
ENST00000489037.2:c.5174G>A	ENSP00000420781.2:p.Arg1725Gln
ENST00000493919.6:c.1802G>A	ENSP00000418819.2:p.Arg601Gln
ENST00000494123.6:c.5252G>A	ENSP00000419103.2:p.Arg1751Gln
ENST00000497488.2:c.4364G>A	ENSP00000418986.2:p.Arg1455Gln
ENST00000618469.2:c.5252G>A	ENSP00000478114.2:p.Arg1751Gln
ENST00000634433.2:c.5129G>A	ENSP00000489431.2:p.Arg1710Gln
ENST00000644379.2:c.5318G>A	ENSP00000496570.2:p.Arg1773Gln
ENST00000644555.2:c.1802G>A	ENSP00000494614.2:p.Arg601Gln
ENST00000652672.2:c.5111G>A	ENSP00000498906.2:p.Arg1704Gln
ENST00000484087.6:c.1814G>A	ENSP00000419481.2:p.Arg605Gln
ENST00000357654.9:c.5252G>A MANE Select	ENSP00000350283.3:p.Arg1751Gln
ENST00000471181.7:c.5315G>A	ENSP00000418960.2:p.Arg1772Gln
ENST00000644379.1:c.1639G>A
ENST00000352993.7:c.1826G>A	ENSP00000312236.5:p.Arg609Gln
ENST00000357654.7:c.5252G>A	ENSP00000350283.3:p.Arg1751Gln
ENST00000461221.5:c.*5035G>A	ENSP00000418548.1:n.*5035G>A
ENST00000468300.5:c.1940G>A	ENSP00000417148.1:p.Arg647Gln
ENST00000471181.6:c.5315G>A	ENSP00000418960.2:p.Arg1772Gln
ENST00000491747.6:c.1940G>A	ENSP00000420705.2:p.Arg647Gln
ENST00000493795.5:c.5111G>A	ENSP00000418775.1:p.Arg1704Gln
ENST00000586385.5:c.182G>A	ENSP00000465818.1:p.Arg61Gln
ENST00000591534.5:c.725G>A	ENSP00000467329.1:p.Arg242Gln
ENST00000591849.5:c.-98-6887G>A	ENSP00000465347.1:n.-98-6887G>A
NM_007294.3:c.5252G>A , LRG_292t1:c.5252G>A	NP_009225.1:p.Arg1751Gln
NM_007297.3:c.5111G>A	NP_009228.2:p.Arg1704Gln
NM_007298.3:c.1940G>A	NP_009229.2:p.Arg647Gln
NM_007299.3:c.1940G>A	NP_009230.2:p.Arg647Gln
NM_007300.3:c.5315G>A	NP_009231.2:p.Arg1772Gln
NR_027676.1:n.5388G>A
NM_007294.4:c.5252G>A MANE Select	NP_009225.1:p.Arg1751Gln
NM_007297.4:c.5111G>A	NP_009228.2:p.Arg1704Gln
NM_007299.4:c.1940G>A	NP_009230.2:p.Arg647Gln
NM_007300.4:c.5315G>A	NP_009231.2:p.Arg1772Gln
NR_027676.2:n.5429G>A