Canonical Allele Identifier: CA003028

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55290
• ClinVar RCV Id: RCV000077587 ; RCV000509637 ; RCV000496525 ; RCV000240804
• dbSNP Id: rs80357303
• MyVariant Identifiers: chr17:g.41223130T>A (hg19) ; chr17:g.43071113T>A (hg38)
• PubMed: PMID:18006916 ; PMID:21523855 ; PMID:22776961 ; PMID:25480878 ; PMID:26221963 ; PMID:26402875 ; PMID:27257965

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071113T>A , CM000679.2:g.43071113T>A	GRCh38
NC_000017.10:g.41223130T>A , CM000679.1:g.41223130T>A	GRCh37
NC_000017.9:g.38476656T>A	NCBI36
NG_005905.2:g.146871A>T , LRG_292:g.146871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4798A>T	ENSP00000417241.2:p.Lys1600Ter
ENST00000470026.6:c.4801A>T	ENSP00000419274.2:p.Lys1601Ter
ENST00000473961.6:c.4675A>T	ENSP00000420201.2:p.Lys1559Ter
ENST00000476777.6:c.4795A>T	ENSP00000417554.2:p.Lys1599Ter
ENST00000477152.6:c.4723A>T	ENSP00000419988.2:p.Lys1575Ter
ENST00000478531.6:c.1489A>T	ENSP00000420412.2:p.Lys497Ter
ENST00000489037.2:c.4723A>T	ENSP00000420781.2:p.Lys1575Ter
ENST00000493919.6:c.1351A>T	ENSP00000418819.2:p.Lys451Ter
ENST00000494123.6:c.4801A>T	ENSP00000419103.2:p.Lys1601Ter
ENST00000497488.2:c.3913A>T	ENSP00000418986.2:p.Lys1305Ter
ENST00000618469.2:c.4801A>T	ENSP00000478114.2:p.Lys1601Ter
ENST00000634433.2:c.4678A>T	ENSP00000489431.2:p.Lys1560Ter
ENST00000644379.2:c.4867A>T	ENSP00000496570.2:p.Lys1623Ter
ENST00000644555.2:c.1351A>T	ENSP00000494614.2:p.Lys451Ter
ENST00000652672.2:c.4660A>T	ENSP00000498906.2:p.Lys1554Ter
ENST00000484087.6:c.1363A>T	ENSP00000419481.2:p.Lys455Ter
ENST00000700182.1:c.1408A>T	ENSP00000514849.1:p.Lys470Ter
ENST00000357654.9:c.4801A>T MANE Select	ENSP00000350283.3:p.Lys1601Ter
ENST00000471181.7:c.4864A>T	ENSP00000418960.2:p.Lys1622Ter
ENST00000644379.1:c.1188A>T
ENST00000352993.7:c.1375A>T	ENSP00000312236.5:p.Lys459Ter
ENST00000357654.7:c.4801A>T	ENSP00000350283.3:p.Lys1601Ter
ENST00000461221.5:c.*4584A>T	ENSP00000418548.1:n.*4584A>T
ENST00000468300.5:c.1489A>T	ENSP00000417148.1:p.Lys497Ter
ENST00000471181.6:c.4864A>T	ENSP00000418960.2:p.Lys1622Ter
ENST00000478531.5:c.1489A>T	ENSP00000420412.1:p.Lys497Ter
ENST00000484087.5:c.1114A>T	ENSP00000419481.1:p.Lys372Ter
ENST00000491747.6:c.1489A>T	ENSP00000420705.2:p.Lys497Ter
ENST00000493795.5:c.4660A>T	ENSP00000418775.1:p.Lys1554Ter
ENST00000493919.5:c.1351A>T	ENSP00000418819.1:p.Lys451Ter
ENST00000586385.5:c.5-7162A>T	ENSP00000465818.1:n.5-7162A>T
ENST00000591534.5:c.274A>T	ENSP00000467329.1:p.Lys92Ter
ENST00000591849.5:c.-98-20923A>T	ENSP00000465347.1:n.-98-20923A>T
NM_007294.3:c.4801A>T , LRG_292t1:c.4801A>T	NP_009225.1:p.Lys1601Ter
NM_007297.3:c.4660A>T	NP_009228.2:p.Lys1554Ter
NM_007298.3:c.1489A>T	NP_009229.2:p.Lys497Ter
NM_007299.3:c.1489A>T	NP_009230.2:p.Lys497Ter
NM_007300.3:c.4864A>T	NP_009231.2:p.Lys1622Ter
NR_027676.1:n.4937A>T
NM_007294.4:c.4801A>T MANE Select	NP_009225.1:p.Lys1601Ter
NM_007297.4:c.4660A>T	NP_009228.2:p.Lys1554Ter
NM_007299.4:c.1489A>T	NP_009230.2:p.Lys497Ter
NM_007300.4:c.4864A>T	NP_009231.2:p.Lys1622Ter
NR_027676.2:n.4978A>T