Canonical Allele Identifier: CA002906

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55228
• ClinVar RCV Id: RCV000112358 ; RCV000165983 ; RCV001342447 ; RCV001818228
• dbSNP Id: rs80357379
• MyVariant Identifiers: chr17:g.41226458T>C (hg19) ; chr17:g.43074441T>C (hg38)
• PubMed: PMID:15235020 ; PMID:19190334

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074441T>C , CM000679.2:g.43074441T>C	GRCh38
NC_000017.10:g.41226458T>C , CM000679.1:g.41226458T>C	GRCh37
NC_000017.9:g.38479984T>C	NCBI36
NG_005905.2:g.143543A>G , LRG_292:g.143543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4562A>G	ENSP00000417241.2:p.Tyr1521Cys
ENST00000470026.6:c.4565A>G	ENSP00000419274.2:p.Tyr1522Cys
ENST00000473961.6:c.4439A>G	ENSP00000420201.2:p.Tyr1480Cys
ENST00000476777.6:c.4559A>G	ENSP00000417554.2:p.Tyr1520Cys
ENST00000477152.6:c.4487A>G	ENSP00000419988.2:p.Tyr1496Cys
ENST00000478531.6:c.1253A>G	ENSP00000420412.2:p.Tyr418Cys
ENST00000489037.2:c.4487A>G	ENSP00000420781.2:p.Tyr1496Cys
ENST00000493919.6:c.1115A>G	ENSP00000418819.2:p.Tyr372Cys
ENST00000494123.6:c.4565A>G	ENSP00000419103.2:p.Tyr1522Cys
ENST00000497488.2:c.3677A>G	ENSP00000418986.2:p.Tyr1226Cys
ENST00000618469.2:c.4565A>G	ENSP00000478114.2:p.Tyr1522Cys
ENST00000634433.2:c.4442A>G	ENSP00000489431.2:p.Tyr1481Cys
ENST00000644379.2:c.4631A>G	ENSP00000496570.2:p.Tyr1544Cys
ENST00000644555.2:c.1115A>G	ENSP00000494614.2:p.Tyr372Cys
ENST00000652672.2:c.4424A>G	ENSP00000498906.2:p.Tyr1475Cys
ENST00000484087.6:c.1127A>G	ENSP00000419481.2:p.Tyr376Cys
ENST00000700182.1:c.1172A>G	ENSP00000514849.1:p.Tyr391Cys
ENST00000357654.9:c.4565A>G MANE Select	ENSP00000350283.3:p.Tyr1522Cys
ENST00000471181.7:c.4628A>G	ENSP00000418960.2:p.Tyr1543Cys
ENST00000644379.1:c.952A>G
ENST00000352993.7:c.1139A>G	ENSP00000312236.5:p.Tyr380Cys
ENST00000357654.7:c.4565A>G	ENSP00000350283.3:p.Tyr1522Cys
ENST00000461221.5:c.*4348A>G	ENSP00000418548.1:n.*4348A>G
ENST00000468300.5:c.1253A>G	ENSP00000417148.1:p.Tyr418Cys
ENST00000471181.6:c.4628A>G	ENSP00000418960.2:p.Tyr1543Cys
ENST00000478531.5:c.1253A>G	ENSP00000420412.1:p.Tyr418Cys
ENST00000484087.5:c.878A>G	ENSP00000419481.1:p.Tyr293Cys
ENST00000491747.6:c.1253A>G	ENSP00000420705.2:p.Tyr418Cys
ENST00000493795.5:c.4424A>G	ENSP00000418775.1:p.Tyr1475Cys
ENST00000493919.5:c.1115A>G	ENSP00000418819.1:p.Tyr372Cys
ENST00000586385.5:c.5-10490A>G	ENSP00000465818.1:n.5-10490A>G
ENST00000591534.5:c.38A>G	ENSP00000467329.1:p.Tyr13Cys
ENST00000591849.5:c.-98-24251A>G	ENSP00000465347.1:n.-98-24251A>G
NM_007294.3:c.4565A>G , LRG_292t1:c.4565A>G	NP_009225.1:p.Tyr1522Cys
NM_007297.3:c.4424A>G	NP_009228.2:p.Tyr1475Cys
NM_007298.3:c.1253A>G	NP_009229.2:p.Tyr418Cys
NM_007299.3:c.1253A>G	NP_009230.2:p.Tyr418Cys
NM_007300.3:c.4628A>G	NP_009231.2:p.Tyr1543Cys
NR_027676.1:n.4701A>G
NM_007294.4:c.4565A>G MANE Select	NP_009225.1:p.Tyr1522Cys
NM_007297.4:c.4424A>G	NP_009228.2:p.Tyr1475Cys
NM_007299.4:c.1253A>G	NP_009230.2:p.Tyr418Cys
NM_007300.4:c.4628A>G	NP_009231.2:p.Tyr1543Cys
NR_027676.2:n.4742A>G