Canonical Allele Identifier: CA10592599

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 951768
• ClinVar RCV Id: RCV001223752 ; RCV001283903
• dbSNP Id: rs587781880
• MyVariant Identifiers: chr17:g.41228523T>A (hg19) ; chr17:g.43076506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076506T>A , CM000679.2:g.43076506T>A	GRCh38
NC_000017.10:g.41228523T>A , CM000679.1:g.41228523T>A	GRCh37
NC_000017.9:g.38482049T>A	NCBI36
NG_005905.2:g.141478A>T , LRG_292:g.141478A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4463A>T	ENSP00000417241.2:p.Lys1488Ile
ENST00000470026.6:c.4466A>T	ENSP00000419274.2:p.Lys1489Ile
ENST00000473961.6:c.4340A>T	ENSP00000420201.2:p.Lys1447Ile
ENST00000476777.6:c.4460A>T	ENSP00000417554.2:p.Lys1487Ile
ENST00000477152.6:c.4388A>T	ENSP00000419988.2:p.Lys1463Ile
ENST00000478531.6:c.1154A>T	ENSP00000420412.2:p.Lys385Ile
ENST00000489037.2:c.4388A>T	ENSP00000420781.2:p.Lys1463Ile
ENST00000493919.6:c.1016A>T	ENSP00000418819.2:p.Lys339Ile
ENST00000494123.6:c.4466A>T	ENSP00000419103.2:p.Lys1489Ile
ENST00000497488.2:c.3578A>T	ENSP00000418986.2:p.Lys1193Ile
ENST00000618469.2:c.4466A>T	ENSP00000478114.2:p.Lys1489Ile
ENST00000634433.2:c.4343A>T	ENSP00000489431.2:p.Lys1448Ile
ENST00000644379.2:c.4532A>T	ENSP00000496570.2:p.Lys1511Ile
ENST00000644555.2:c.1016A>T	ENSP00000494614.2:p.Lys339Ile
ENST00000652672.2:c.4325A>T	ENSP00000498906.2:p.Lys1442Ile
ENST00000484087.6:c.1028A>T	ENSP00000419481.2:p.Lys343Ile
ENST00000700182.1:c.1073A>T	ENSP00000514849.1:p.Lys358Ile
ENST00000357654.9:c.4466A>T MANE Select	ENSP00000350283.3:p.Lys1489Ile
ENST00000471181.7:c.4529A>T	ENSP00000418960.2:p.Lys1510Ile
ENST00000644379.1:c.853A>T
ENST00000352993.7:c.1040A>T	ENSP00000312236.5:p.Lys347Ile
ENST00000357654.7:c.4466A>T	ENSP00000350283.3:p.Lys1489Ile
ENST00000461221.5:c.*4249A>T	ENSP00000418548.1:n.*4249A>T
ENST00000468300.5:c.1154A>T	ENSP00000417148.1:p.Lys385Ile
ENST00000471181.6:c.4529A>T	ENSP00000418960.2:p.Lys1510Ile
ENST00000478531.5:c.1154A>T	ENSP00000420412.1:p.Lys385Ile
ENST00000484087.5:c.779A>T	ENSP00000419481.1:p.Lys260Ile
ENST00000487825.5:c.782A>T	ENSP00000418212.1:p.Lys261Ile
ENST00000491747.6:c.1154A>T	ENSP00000420705.2:p.Lys385Ile
ENST00000493795.5:c.4325A>T	ENSP00000418775.1:p.Lys1442Ile
ENST00000493919.5:c.1016A>T	ENSP00000418819.1:p.Lys339Ile
ENST00000586385.5:c.5-12555A>T	ENSP00000465818.1:n.5-12555A>T
ENST00000591534.5:c.-43-1985A>T	ENSP00000467329.1:n.-43-1985A>T
ENST00000591849.5:c.-98-26316A>T	ENSP00000465347.1:n.-98-26316A>T
ENST00000621897.1:n.357A>T
NM_007294.3:c.4466A>T , LRG_292t1:c.4466A>T	NP_009225.1:p.Lys1489Ile
NM_007297.3:c.4325A>T	NP_009228.2:p.Lys1442Ile
NM_007298.3:c.1154A>T	NP_009229.2:p.Lys385Ile
NM_007299.3:c.1154A>T	NP_009230.2:p.Lys385Ile
NM_007300.3:c.4529A>T	NP_009231.2:p.Lys1510Ile
NR_027676.1:n.4602A>T
NM_007294.4:c.4466A>T MANE Select	NP_009225.1:p.Lys1489Ile
NM_007297.4:c.4325A>T	NP_009228.2:p.Lys1442Ile
NM_007299.4:c.1154A>T	NP_009230.2:p.Lys385Ile
NM_007300.4:c.4529A>T	NP_009231.2:p.Lys1510Ile
NR_027676.2:n.4643A>T