Canonical Allele Identifier: CA003143

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55350
• ClinVar RCV Id: RCV000048732 ; RCV000083214 ; RCV000129500 ; RCV000420335 ; RCV001080706
• dbSNP Id: rs80357169
• ExAC: 17:41219706 C / T
• gnomAD v2: 17-41219706-C-T
• gnomAD v4: 17-43067689-C-T
• MyVariant Identifiers: chr17:g.41219706C>T (hg19) ; chr17:g.43067689C>T (hg38)
• PubMed: PMID:10923033 ; PMID:10946236 ; PMID:11157798 ; PMID:12531920 ; PMID:15026808 ; PMID:15172985 ; PMID:15350310 ; PMID:17305420 ; PMID:18403564 ; PMID:20378548 ; PMID:20423312 ; PMID:20516115 ; PMID:21447777 ; PMID:24753228 ; PMID:26206375

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067689C>T , CM000679.2:g.43067689C>T	GRCh38
NC_000017.10:g.41219706C>T , CM000679.1:g.41219706C>T	GRCh37
NC_000017.9:g.38473232C>T	NCBI36
NG_005905.2:g.150295G>A , LRG_292:g.150295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4990G>A	ENSP00000417241.2:p.Val1664Met
ENST00000470026.6:c.4993G>A	ENSP00000419274.2:p.Val1665Met
ENST00000473961.6:c.4867G>A	ENSP00000420201.2:p.Val1623Met
ENST00000476777.6:c.4987G>A	ENSP00000417554.2:p.Val1663Met
ENST00000477152.6:c.4915G>A	ENSP00000419988.2:p.Val1639Met
ENST00000478531.6:c.1681G>A	ENSP00000420412.2:p.Val561Met
ENST00000489037.2:c.4915G>A	ENSP00000420781.2:p.Val1639Met
ENST00000493919.6:c.1543G>A	ENSP00000418819.2:p.Val515Met
ENST00000494123.6:c.4993G>A	ENSP00000419103.2:p.Val1665Met
ENST00000497488.2:c.4105G>A	ENSP00000418986.2:p.Val1369Met
ENST00000618469.2:c.4993G>A	ENSP00000478114.2:p.Val1665Met
ENST00000634433.2:c.4870G>A	ENSP00000489431.2:p.Val1624Met
ENST00000644379.2:c.5059G>A	ENSP00000496570.2:p.Val1687Met
ENST00000644555.2:c.1543G>A	ENSP00000494614.2:p.Val515Met
ENST00000652672.2:c.4852G>A	ENSP00000498906.2:p.Val1618Met
ENST00000484087.6:c.1555G>A	ENSP00000419481.2:p.Val519Met
ENST00000357654.9:c.4993G>A MANE Select	ENSP00000350283.3:p.Val1665Met
ENST00000471181.7:c.5056G>A	ENSP00000418960.2:p.Val1686Met
ENST00000644379.1:c.1380G>A
ENST00000352993.7:c.1567G>A	ENSP00000312236.5:p.Val523Met
ENST00000357654.7:c.4993G>A	ENSP00000350283.3:p.Val1665Met
ENST00000461221.5:c.*4776G>A	ENSP00000418548.1:n.*4776G>A
ENST00000468300.5:c.1681G>A	ENSP00000417148.1:p.Val561Met
ENST00000471181.6:c.5056G>A	ENSP00000418960.2:p.Val1686Met
ENST00000472490.1:n.146G>A
ENST00000478531.5:c.1681G>A	ENSP00000420412.1:p.Val561Met
ENST00000484087.5:c.1306G>A	ENSP00000419481.1:p.Val436Met
ENST00000491747.6:c.1681G>A	ENSP00000420705.2:p.Val561Met
ENST00000493795.5:c.4852G>A	ENSP00000418775.1:p.Val1618Met
ENST00000493919.5:c.1543G>A	ENSP00000418819.1:p.Val515Met
ENST00000586385.5:c.5-3738G>A	ENSP00000465818.1:n.5-3738G>A
ENST00000591534.5:c.466G>A	ENSP00000467329.1:p.Val156Met
ENST00000591849.5:c.-98-17499G>A	ENSP00000465347.1:n.-98-17499G>A
NM_007294.3:c.4993G>A , LRG_292t1:c.4993G>A	NP_009225.1:p.Val1665Met
NM_007297.3:c.4852G>A	NP_009228.2:p.Val1618Met
NM_007298.3:c.1681G>A	NP_009229.2:p.Val561Met
NM_007299.3:c.1681G>A	NP_009230.2:p.Val561Met
NM_007300.3:c.5056G>A	NP_009231.2:p.Val1686Met
NR_027676.1:n.5129G>A
NM_007294.4:c.4993G>A MANE Select	NP_009225.1:p.Val1665Met
NM_007297.4:c.4852G>A	NP_009228.2:p.Val1618Met
NM_007299.4:c.1681G>A	NP_009230.2:p.Val561Met
NM_007300.4:c.5056G>A	NP_009231.2:p.Val1686Met
NR_027676.2:n.5170G>A