Canonical Allele Identifier: CA003306

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55434
• ClinVar RCV Id: RCV000077604 ; RCV000212195 ; RCV000580491 ; RCV000779910 ; RCV001358501
• dbSNP Id: rs80357239
• MyVariant Identifiers: chr17:g.41215389C>T (hg19) ; chr17:g.43063372C>T (hg38)
• PubMed: PMID:9333265

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5151G>A	ENSP00000417241.2:p.Trp1717Ter
ENST00000470026.6:c.5154G>A	ENSP00000419274.2:p.Trp1718Ter
ENST00000473961.6:c.5028G>A	ENSP00000420201.2:p.Trp1676Ter
ENST00000476777.6:c.5148G>A	ENSP00000417554.2:p.Trp1716Ter
ENST00000477152.6:c.5076G>A	ENSP00000419988.2:p.Trp1692Ter
ENST00000478531.6:c.1842G>A	ENSP00000420412.2:p.Trp614Ter
ENST00000489037.2:c.5076G>A	ENSP00000420781.2:p.Trp1692Ter
ENST00000493919.6:c.1704G>A	ENSP00000418819.2:p.Trp568Ter
ENST00000494123.6:c.5154G>A	ENSP00000419103.2:p.Trp1718Ter
ENST00000497488.2:c.4266G>A	ENSP00000418986.2:p.Trp1422Ter
ENST00000618469.2:c.5154G>A	ENSP00000478114.2:p.Trp1718Ter
ENST00000634433.2:c.5031G>A	ENSP00000489431.2:p.Trp1677Ter
ENST00000644379.2:c.5220G>A	ENSP00000496570.2:p.Trp1740Ter
ENST00000644555.2:c.1704G>A	ENSP00000494614.2:p.Trp568Ter
ENST00000652672.2:c.5013G>A	ENSP00000498906.2:p.Trp1671Ter
ENST00000484087.6:c.1716G>A	ENSP00000419481.2:p.Trp572Ter
ENST00000357654.9:c.5154G>A MANE Select	ENSP00000350283.3:p.Trp1718Ter
ENST00000471181.7:c.5217G>A	ENSP00000418960.2:p.Trp1739Ter
ENST00000644379.1:c.1541G>A
ENST00000352993.7:c.1728G>A	ENSP00000312236.5:p.Trp576Ter
ENST00000357654.7:c.5154G>A	ENSP00000350283.3:p.Trp1718Ter
ENST00000461221.5:c.*4937G>A	ENSP00000418548.1:n.*4937G>A
ENST00000468300.5:c.1842G>A	ENSP00000417148.1:p.Trp614Ter
ENST00000471181.6:c.5217G>A	ENSP00000418960.2:p.Trp1739Ter
ENST00000478531.5:c.1842G>A	ENSP00000420412.1:p.Trp614Ter
ENST00000484087.5:c.1467G>A	ENSP00000419481.1:p.Trp489Ter
ENST00000491747.6:c.1842G>A	ENSP00000420705.2:p.Trp614Ter
ENST00000493795.5:c.5013G>A	ENSP00000418775.1:p.Trp1671Ter
ENST00000493919.5:c.1704G>A	ENSP00000418819.1:p.Trp568Ter
ENST00000586385.5:c.84G>A	ENSP00000465818.1:p.Trp28Ter
ENST00000591534.5:c.627G>A	ENSP00000467329.1:p.Trp209Ter
ENST00000591849.5:c.-98-13182G>A	ENSP00000465347.1:n.-98-13182G>A
NM_007294.3:c.5154G>A , LRG_292t1:c.5154G>A	NP_009225.1:p.Trp1718Ter
NM_007297.3:c.5013G>A	NP_009228.2:p.Trp1671Ter
NM_007298.3:c.1842G>A	NP_009229.2:p.Trp614Ter
NM_007299.3:c.1842G>A	NP_009230.2:p.Trp614Ter
NM_007300.3:c.5217G>A	NP_009231.2:p.Trp1739Ter
NR_027676.1:n.5290G>A
NM_007294.4:c.5154G>A MANE Select	NP_009225.1:p.Trp1718Ter
NM_007297.4:c.5013G>A	NP_009228.2:p.Trp1671Ter
NM_007299.4:c.1842G>A	NP_009230.2:p.Trp614Ter
NM_007300.4:c.5217G>A	NP_009231.2:p.Trp1739Ter
NR_027676.2:n.5331G>A