Canonical Allele Identifier: CA002653

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55111
• ClinVar RCV Id: RCV001353555
• dbSNP Id: rs28897690
• ExAC: 17:41243014 C / T
• gnomAD v2: 17-41243014-C-T
• gnomAD v3: 17-43090997-C-T
• gnomAD v4: 17-43090997-C-T
• MyVariant Identifiers: chr17:g.41243014C>T (hg19) ; chr17:g.43090997C>T (hg38)
• PubMed: PMID:10923033 ; PMID:15235020 ; PMID:15385441 ; PMID:16267036 ; PMID:16826315 ; PMID:23704879 ; PMID:23867111 ; PMID:23982851 ; PMID:24607278 ; PMID:25777348

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090997C>T , CM000679.2:g.43090997C>T	GRCh38
NC_000017.10:g.41243014C>T , CM000679.1:g.41243014C>T	GRCh37
NC_000017.9:g.38496540C>T	NCBI36
NG_005905.2:g.126987G>A , LRG_292:g.126987G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4132G>A	ENSP00000417241.2:p.Val1378Ile
ENST00000470026.6:c.4132G>A	ENSP00000419274.2:p.Val1378Ile
ENST00000473961.6:c.4006G>A	ENSP00000420201.2:p.Val1336Ile
ENST00000476777.6:c.4129G>A	ENSP00000417554.2:p.Val1377Ile
ENST00000477152.6:c.4054G>A	ENSP00000419988.2:p.Val1352Ile
ENST00000478531.6:c.820G>A	ENSP00000420412.2:p.Val274Ile
ENST00000489037.2:c.4054G>A	ENSP00000420781.2:p.Val1352Ile
ENST00000493919.6:c.682G>A	ENSP00000418819.2:p.Val228Ile
ENST00000494123.6:c.4132G>A	ENSP00000419103.2:p.Val1378Ile
ENST00000497488.2:c.3244G>A	ENSP00000418986.2:p.Val1082Ile
ENST00000618469.2:c.4132G>A	ENSP00000478114.2:p.Val1378Ile
ENST00000634433.2:c.4009G>A	ENSP00000489431.2:p.Val1337Ile
ENST00000644379.2:c.4132G>A	ENSP00000496570.2:p.Val1378Ile
ENST00000644555.2:c.682G>A	ENSP00000494614.2:p.Val228Ile
ENST00000652672.2:c.3991G>A	ENSP00000498906.2:p.Val1331Ile
ENST00000484087.6:c.700G>A	ENSP00000419481.2:p.Val234Ile
ENST00000700182.1:c.742G>A	ENSP00000514849.1:p.Val248Ile
ENST00000357654.9:c.4132G>A MANE Select	ENSP00000350283.3:p.Val1378Ile
ENST00000471181.7:c.4132G>A	ENSP00000418960.2:p.Val1378Ile
ENST00000644379.1:c.453G>A
ENST00000352993.7:c.706G>A	ENSP00000312236.5:p.Val236Ile
ENST00000357654.7:c.4132G>A	ENSP00000350283.3:p.Val1378Ile
ENST00000461221.5:c.*3915G>A	ENSP00000418548.1:n.*3915G>A
ENST00000461574.1:c.426G>A
ENST00000468300.5:c.823G>A	ENSP00000417148.1:p.Val275Ile
ENST00000471181.6:c.4132G>A	ENSP00000418960.2:p.Val1378Ile
ENST00000478531.5:c.820G>A	ENSP00000420412.1:p.Val274Ile
ENST00000484087.5:c.445G>A	ENSP00000419481.1:p.Val149Ile
ENST00000487825.5:c.448G>A	ENSP00000418212.1:p.Val150Ile
ENST00000491747.6:c.823G>A	ENSP00000420705.2:p.Val275Ile
ENST00000493795.5:c.3991G>A	ENSP00000418775.1:p.Val1331Ile
ENST00000493919.5:c.682G>A	ENSP00000418819.1:p.Val228Ile
ENST00000586385.5:c.5-27046G>A	ENSP00000465818.1:n.5-27046G>A
ENST00000591534.5:c.-43-16476G>A	ENSP00000467329.1:n.-43-16476G>A
ENST00000591849.5:c.-99+34274G>A	ENSP00000465347.1:n.-99+34274G>A
NM_007294.3:c.4132G>A , LRG_292t1:c.4132G>A	NP_009225.1:p.Val1378Ile
NM_007297.3:c.3991G>A	NP_009228.2:p.Val1331Ile
NM_007298.3:c.823G>A	NP_009229.2:p.Val275Ile
NM_007299.3:c.823G>A	NP_009230.2:p.Val275Ile
NM_007300.3:c.4132G>A	NP_009231.2:p.Val1378Ile
NR_027676.1:n.4268G>A
NM_007294.4:c.4132G>A MANE Select	NP_009225.1:p.Val1378Ile
NM_007297.4:c.3991G>A	NP_009228.2:p.Val1331Ile
NM_007299.4:c.823G>A	NP_009230.2:p.Val275Ile
NM_007300.4:c.4132G>A	NP_009231.2:p.Val1378Ile
NR_027676.2:n.4309G>A