Canonical Allele Identifier: CA003307

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55435
• ClinVar RCV Id: RCV000129752 ; RCV000112539 ; RCV000482189 ; RCV001328383 ; RCV003162418
• dbSNP Id: rs80357239
• MyVariant Identifiers: chr17:g.41215389C>A (hg19) ; chr17:g.43063372C>A (hg38)
• PubMed: PMID:14534301 ; PMID:15172985 ; PMID:20516115

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063372C>A , CM000679.2:g.43063372C>A	GRCh38
NC_000017.10:g.41215389C>A , CM000679.1:g.41215389C>A	GRCh37
NC_000017.9:g.38468915C>A	NCBI36
NG_005905.2:g.154612G>T , LRG_292:g.154612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5151G>T	ENSP00000417241.2:p.Trp1717Cys
ENST00000470026.6:c.5154G>T	ENSP00000419274.2:p.Trp1718Cys
ENST00000473961.6:c.5028G>T	ENSP00000420201.2:p.Trp1676Cys
ENST00000476777.6:c.5148G>T	ENSP00000417554.2:p.Trp1716Cys
ENST00000477152.6:c.5076G>T	ENSP00000419988.2:p.Trp1692Cys
ENST00000478531.6:c.1842G>T	ENSP00000420412.2:p.Trp614Cys
ENST00000489037.2:c.5076G>T	ENSP00000420781.2:p.Trp1692Cys
ENST00000493919.6:c.1704G>T	ENSP00000418819.2:p.Trp568Cys
ENST00000494123.6:c.5154G>T	ENSP00000419103.2:p.Trp1718Cys
ENST00000497488.2:c.4266G>T	ENSP00000418986.2:p.Trp1422Cys
ENST00000618469.2:c.5154G>T	ENSP00000478114.2:p.Trp1718Cys
ENST00000634433.2:c.5031G>T	ENSP00000489431.2:p.Trp1677Cys
ENST00000644379.2:c.5220G>T	ENSP00000496570.2:p.Trp1740Cys
ENST00000644555.2:c.1704G>T	ENSP00000494614.2:p.Trp568Cys
ENST00000652672.2:c.5013G>T	ENSP00000498906.2:p.Trp1671Cys
ENST00000484087.6:c.1716G>T	ENSP00000419481.2:p.Trp572Cys
ENST00000357654.9:c.5154G>T MANE Select	ENSP00000350283.3:p.Trp1718Cys
ENST00000471181.7:c.5217G>T	ENSP00000418960.2:p.Trp1739Cys
ENST00000644379.1:c.1541G>T
ENST00000352993.7:c.1728G>T	ENSP00000312236.5:p.Trp576Cys
ENST00000357654.7:c.5154G>T	ENSP00000350283.3:p.Trp1718Cys
ENST00000461221.5:c.*4937G>T	ENSP00000418548.1:n.*4937G>T
ENST00000468300.5:c.1842G>T	ENSP00000417148.1:p.Trp614Cys
ENST00000471181.6:c.5217G>T	ENSP00000418960.2:p.Trp1739Cys
ENST00000478531.5:c.1842G>T	ENSP00000420412.1:p.Trp614Cys
ENST00000484087.5:c.1467G>T	ENSP00000419481.1:p.Trp489Cys
ENST00000491747.6:c.1842G>T	ENSP00000420705.2:p.Trp614Cys
ENST00000493795.5:c.5013G>T	ENSP00000418775.1:p.Trp1671Cys
ENST00000493919.5:c.1704G>T	ENSP00000418819.1:p.Trp568Cys
ENST00000586385.5:c.84G>T	ENSP00000465818.1:p.Trp28Cys
ENST00000591534.5:c.627G>T	ENSP00000467329.1:p.Trp209Cys
ENST00000591849.5:c.-98-13182G>T	ENSP00000465347.1:n.-98-13182G>T
NM_007294.3:c.5154G>T , LRG_292t1:c.5154G>T	NP_009225.1:p.Trp1718Cys
NM_007297.3:c.5013G>T	NP_009228.2:p.Trp1671Cys
NM_007298.3:c.1842G>T	NP_009229.2:p.Trp614Cys
NM_007299.3:c.1842G>T	NP_009230.2:p.Trp614Cys
NM_007300.3:c.5217G>T	NP_009231.2:p.Trp1739Cys
NR_027676.1:n.5290G>T
NM_007294.4:c.5154G>T MANE Select	NP_009225.1:p.Trp1718Cys
NM_007297.4:c.5013G>T	NP_009228.2:p.Trp1671Cys
NM_007299.4:c.1842G>T	NP_009230.2:p.Trp614Cys
NM_007300.4:c.5217G>T	NP_009231.2:p.Trp1739Cys
NR_027676.2:n.5331G>T