Canonical Allele Identifier: CA002636

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55105
• ClinVar RCV Id: RCV000112263 ; RCV000195393 ; RCV000132315 ; RCV001798247 ; RCV002281742 ; RCV001284399
• dbSNP Id: rs55848034
• gnomAD v2: 17-41243031-C-T
• gnomAD v3: 17-43091014-C-T
• gnomAD v4: 17-43091014-C-T
• MyVariant Identifiers: chr17:g.41243031C>T (hg19) ; chr17:g.43091014C>T (hg38)
• PubMed: PMID:10923033 ; PMID:15235020

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091014C>T , CM000679.2:g.43091014C>T	GRCh38
NC_000017.10:g.41243031C>T , CM000679.1:g.41243031C>T	GRCh37
NC_000017.9:g.38496557C>T	NCBI36
NG_005905.2:g.126970G>A , LRG_292:g.126970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4115G>A	ENSP00000417241.2:p.Cys1372Tyr
ENST00000470026.6:c.4115G>A	ENSP00000419274.2:p.Cys1372Tyr
ENST00000473961.6:c.3989G>A	ENSP00000420201.2:p.Cys1330Tyr
ENST00000476777.6:c.4112G>A	ENSP00000417554.2:p.Cys1371Tyr
ENST00000477152.6:c.4037G>A	ENSP00000419988.2:p.Cys1346Tyr
ENST00000478531.6:c.803G>A	ENSP00000420412.2:p.Cys268Tyr
ENST00000489037.2:c.4037G>A	ENSP00000420781.2:p.Cys1346Tyr
ENST00000493919.6:c.665G>A	ENSP00000418819.2:p.Cys222Tyr
ENST00000494123.6:c.4115G>A	ENSP00000419103.2:p.Cys1372Tyr
ENST00000497488.2:c.3227G>A	ENSP00000418986.2:p.Cys1076Tyr
ENST00000618469.2:c.4115G>A	ENSP00000478114.2:p.Cys1372Tyr
ENST00000634433.2:c.3992G>A	ENSP00000489431.2:p.Cys1331Tyr
ENST00000644379.2:c.4115G>A	ENSP00000496570.2:p.Cys1372Tyr
ENST00000644555.2:c.665G>A	ENSP00000494614.2:p.Cys222Tyr
ENST00000652672.2:c.3974G>A	ENSP00000498906.2:p.Cys1325Tyr
ENST00000484087.6:c.683G>A	ENSP00000419481.2:p.Cys228Tyr
ENST00000700182.1:c.725G>A	ENSP00000514849.1:p.Cys242Tyr
ENST00000357654.9:c.4115G>A MANE Select	ENSP00000350283.3:p.Cys1372Tyr
ENST00000471181.7:c.4115G>A	ENSP00000418960.2:p.Cys1372Tyr
ENST00000644379.1:c.436G>A
ENST00000352993.7:c.689G>A	ENSP00000312236.5:p.Cys230Tyr
ENST00000357654.7:c.4115G>A	ENSP00000350283.3:p.Cys1372Tyr
ENST00000461221.5:c.*3898G>A	ENSP00000418548.1:n.*3898G>A
ENST00000461574.1:c.409G>A
ENST00000468300.5:c.806G>A	ENSP00000417148.1:p.Cys269Tyr
ENST00000471181.6:c.4115G>A	ENSP00000418960.2:p.Cys1372Tyr
ENST00000478531.5:c.803G>A	ENSP00000420412.1:p.Cys268Tyr
ENST00000484087.5:c.428G>A	ENSP00000419481.1:p.Cys143Tyr
ENST00000487825.5:c.431G>A	ENSP00000418212.1:p.Cys144Tyr
ENST00000491747.6:c.806G>A	ENSP00000420705.2:p.Cys269Tyr
ENST00000493795.5:c.3974G>A	ENSP00000418775.1:p.Cys1325Tyr
ENST00000493919.5:c.665G>A	ENSP00000418819.1:p.Cys222Tyr
ENST00000586385.5:c.5-27063G>A	ENSP00000465818.1:n.5-27063G>A
ENST00000591534.5:c.-43-16493G>A	ENSP00000467329.1:n.-43-16493G>A
ENST00000591849.5:c.-99+34257G>A	ENSP00000465347.1:n.-99+34257G>A
NM_007294.3:c.4115G>A , LRG_292t1:c.4115G>A	NP_009225.1:p.Cys1372Tyr
NM_007297.3:c.3974G>A	NP_009228.2:p.Cys1325Tyr
NM_007298.3:c.806G>A	NP_009229.2:p.Cys269Tyr
NM_007299.3:c.806G>A	NP_009230.2:p.Cys269Tyr
NM_007300.3:c.4115G>A	NP_009231.2:p.Cys1372Tyr
NR_027676.1:n.4251G>A
NM_007294.4:c.4115G>A MANE Select	NP_009225.1:p.Cys1372Tyr
NM_007297.4:c.3974G>A	NP_009228.2:p.Cys1325Tyr
NM_007299.4:c.806G>A	NP_009230.2:p.Cys269Tyr
NM_007300.4:c.4115G>A	NP_009231.2:p.Cys1372Tyr
NR_027676.2:n.4292G>A