Canonical Allele Identifier: CA002814

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142836
• ClinVar RCV Id: RCV000132271 ; RCV000241288 ; RCV000793983 ; RCV002478403
• dbSNP Id: rs80356997
• MyVariant Identifiers: chr17:g.41228600G>C (hg19) ; chr17:g.43076583G>C (hg38)
• PubMed: PMID:28152038

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076583G>C , CM000679.2:g.43076583G>C	GRCh38
NC_000017.10:g.41228600G>C , CM000679.1:g.41228600G>C	GRCh37
NC_000017.9:g.38482126G>C	NCBI36
NG_005905.2:g.141401C>G , LRG_292:g.141401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4386C>G	ENSP00000417241.2:p.Tyr1462Ter
ENST00000470026.6:c.4389C>G	ENSP00000419274.2:p.Tyr1463Ter
ENST00000473961.6:c.4263C>G	ENSP00000420201.2:p.Tyr1421Ter
ENST00000476777.6:c.4383C>G	ENSP00000417554.2:p.Tyr1461Ter
ENST00000477152.6:c.4311C>G	ENSP00000419988.2:p.Tyr1437Ter
ENST00000478531.6:c.1077C>G	ENSP00000420412.2:p.Tyr359Ter
ENST00000489037.2:c.4311C>G	ENSP00000420781.2:p.Tyr1437Ter
ENST00000493919.6:c.939C>G	ENSP00000418819.2:p.Tyr313Ter
ENST00000494123.6:c.4389C>G	ENSP00000419103.2:p.Tyr1463Ter
ENST00000497488.2:c.3501C>G	ENSP00000418986.2:p.Tyr1167Ter
ENST00000618469.2:c.4389C>G	ENSP00000478114.2:p.Tyr1463Ter
ENST00000634433.2:c.4266C>G	ENSP00000489431.2:p.Tyr1422Ter
ENST00000644379.2:c.4455C>G	ENSP00000496570.2:p.Tyr1485Ter
ENST00000644555.2:c.939C>G	ENSP00000494614.2:p.Tyr313Ter
ENST00000652672.2:c.4248C>G	ENSP00000498906.2:p.Tyr1416Ter
ENST00000484087.6:c.951C>G	ENSP00000419481.2:p.Tyr317Ter
ENST00000700182.1:c.996C>G	ENSP00000514849.1:p.Tyr332Ter
ENST00000357654.9:c.4389C>G MANE Select	ENSP00000350283.3:p.Tyr1463Ter
ENST00000471181.7:c.4452C>G	ENSP00000418960.2:p.Tyr1484Ter
ENST00000644379.1:c.776C>G
ENST00000352993.7:c.963C>G	ENSP00000312236.5:p.Tyr321Ter
ENST00000357654.7:c.4389C>G	ENSP00000350283.3:p.Tyr1463Ter
ENST00000461221.5:c.*4172C>G	ENSP00000418548.1:n.*4172C>G
ENST00000461574.1:c.680C>G
ENST00000468300.5:c.1077C>G	ENSP00000417148.1:p.Tyr359Ter
ENST00000471181.6:c.4452C>G	ENSP00000418960.2:p.Tyr1484Ter
ENST00000478531.5:c.1077C>G	ENSP00000420412.1:p.Tyr359Ter
ENST00000484087.5:c.702C>G	ENSP00000419481.1:p.Tyr234Ter
ENST00000487825.5:c.705C>G	ENSP00000418212.1:p.Tyr235Ter
ENST00000491747.6:c.1077C>G	ENSP00000420705.2:p.Tyr359Ter
ENST00000493795.5:c.4248C>G	ENSP00000418775.1:p.Tyr1416Ter
ENST00000493919.5:c.939C>G	ENSP00000418819.1:p.Tyr313Ter
ENST00000586385.5:c.5-12632C>G	ENSP00000465818.1:n.5-12632C>G
ENST00000591534.5:c.-43-2062C>G	ENSP00000467329.1:n.-43-2062C>G
ENST00000591849.5:c.-98-26393C>G	ENSP00000465347.1:n.-98-26393C>G
ENST00000621897.1:n.280C>G
NM_007294.3:c.4389C>G , LRG_292t1:c.4389C>G	NP_009225.1:p.Tyr1463Ter
NM_007297.3:c.4248C>G	NP_009228.2:p.Tyr1416Ter
NM_007298.3:c.1077C>G	NP_009229.2:p.Tyr359Ter
NM_007299.3:c.1077C>G	NP_009230.2:p.Tyr359Ter
NM_007300.3:c.4452C>G	NP_009231.2:p.Tyr1484Ter
NR_027676.1:n.4525C>G
NM_007294.4:c.4389C>G MANE Select	NP_009225.1:p.Tyr1463Ter
NM_007297.4:c.4248C>G	NP_009228.2:p.Tyr1416Ter
NM_007299.4:c.1077C>G	NP_009230.2:p.Tyr359Ter
NM_007300.4:c.4452C>G	NP_009231.2:p.Tyr1484Ter
NR_027676.2:n.4566C>G