Canonical Allele Identifier: CA002739

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55156
• ClinVar RCV Id: RCV000112306 ; RCV000131530 ; RCV000174360 ; RCV000679697 ; RCV001084565
• dbSNP Id: rs80357013
• ExAC: 17:41234517 G / A
• gnomAD v2: 17-41234517-G-A
• gnomAD v3: 17-43082500-G-A
• gnomAD v4: 17-43082500-G-A
• MyVariant Identifiers: chr17:g.41234517G>A (hg19) ; chr17:g.43082500G>A (hg38)
• PubMed: PMID:12080089 ; PMID:15385441 ; PMID:15689452 ; PMID:16267036 ; PMID:17925560 ; PMID:21447777 ; PMID:22682623 ; PMID:23704879 ; PMID:23842040 ; PMID:23891399 ; PMID:25479140 ; PMID:26269718 ; PMID:26295337 ; PMID:26689913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082500G>A , CM000679.2:g.43082500G>A	GRCh38
NC_000017.10:g.41234517G>A , CM000679.1:g.41234517G>A	GRCh37
NC_000017.9:g.38488043G>A	NCBI36
NG_005905.2:g.135484C>T , LRG_292:g.135484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4261C>T	ENSP00000417241.2:p.His1421Tyr
ENST00000470026.6:c.4261C>T	ENSP00000419274.2:p.His1421Tyr
ENST00000473961.6:c.4135C>T	ENSP00000420201.2:p.His1379Tyr
ENST00000476777.6:c.4255C>T	ENSP00000417554.2:p.His1419Tyr
ENST00000477152.6:c.4183C>T	ENSP00000419988.2:p.His1395Tyr
ENST00000478531.6:c.949C>T	ENSP00000420412.2:p.His317Tyr
ENST00000489037.2:c.4183C>T	ENSP00000420781.2:p.His1395Tyr
ENST00000493919.6:c.811C>T	ENSP00000418819.2:p.His271Tyr
ENST00000494123.6:c.4261C>T	ENSP00000419103.2:p.His1421Tyr
ENST00000497488.2:c.3373C>T	ENSP00000418986.2:p.His1125Tyr
ENST00000618469.2:c.4261C>T	ENSP00000478114.2:p.His1421Tyr
ENST00000634433.2:c.4138C>T	ENSP00000489431.2:p.His1380Tyr
ENST00000644379.2:c.4261C>T	ENSP00000496570.2:p.His1421Tyr
ENST00000644555.2:c.811C>T	ENSP00000494614.2:p.His271Tyr
ENST00000652672.2:c.4120C>T	ENSP00000498906.2:p.His1374Tyr
ENST00000484087.6:c.826C>T	ENSP00000419481.2:p.His276Tyr
ENST00000700182.1:c.871C>T	ENSP00000514849.1:p.His291Tyr
ENST00000357654.9:c.4261C>T MANE Select	ENSP00000350283.3:p.His1421Tyr
ENST00000471181.7:c.4261C>T	ENSP00000418960.2:p.His1421Tyr
ENST00000644379.1:c.582C>T
ENST00000352993.7:c.835C>T	ENSP00000312236.5:p.His279Tyr
ENST00000357654.7:c.4261C>T	ENSP00000350283.3:p.His1421Tyr
ENST00000461221.5:c.*4044C>T	ENSP00000418548.1:n.*4044C>T
ENST00000461574.1:c.555C>T
ENST00000468300.5:c.952C>T	ENSP00000417148.1:p.His318Tyr
ENST00000471181.6:c.4261C>T	ENSP00000418960.2:p.His1421Tyr
ENST00000478531.5:c.949C>T	ENSP00000420412.1:p.His317Tyr
ENST00000484087.5:c.574C>T	ENSP00000419481.1:p.His192Tyr
ENST00000487825.5:c.577C>T	ENSP00000418212.1:p.His193Tyr
ENST00000491747.6:c.952C>T	ENSP00000420705.2:p.His318Tyr
ENST00000493795.5:c.4120C>T	ENSP00000418775.1:p.His1374Tyr
ENST00000493919.5:c.811C>T	ENSP00000418819.1:p.His271Tyr
ENST00000586385.5:c.5-18549C>T	ENSP00000465818.1:n.5-18549C>T
ENST00000591534.5:c.-43-7979C>T	ENSP00000467329.1:n.-43-7979C>T
ENST00000591849.5:c.-98-32310C>T	ENSP00000465347.1:n.-98-32310C>T
ENST00000621897.1:n.155C>T
NM_007294.3:c.4261C>T , LRG_292t1:c.4261C>T	NP_009225.1:p.His1421Tyr
NM_007297.3:c.4120C>T	NP_009228.2:p.His1374Tyr
NM_007298.3:c.952C>T	NP_009229.2:p.His318Tyr
NM_007299.3:c.952C>T	NP_009230.2:p.His318Tyr
NM_007300.3:c.4261C>T	NP_009231.2:p.His1421Tyr
NR_027676.1:n.4397C>T
NM_007294.4:c.4261C>T MANE Select	NP_009225.1:p.His1421Tyr
NM_007297.4:c.4120C>T	NP_009228.2:p.His1374Tyr
NM_007299.4:c.952C>T	NP_009230.2:p.His318Tyr
NM_007300.4:c.4261C>T	NP_009231.2:p.His1421Tyr
NR_027676.2:n.4438C>T