Canonical Allele Identifier: CA003455

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182167
• ClinVar RCV Id: RCV000160002 ; RCV001072670 ; RCV003644912
• dbSNP Id: rs730881497
• COSMIC: COSM4912542 ; COSM4912543
• MyVariant Identifiers: chr17:g.41203109C>T (hg19) ; chr17:g.43051092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051092C>T , CM000679.2:g.43051092C>T	GRCh38
NC_000017.10:g.41203109C>T , CM000679.1:g.41203109C>T	GRCh37
NC_000017.9:g.38456635C>T	NCBI36
NG_005905.2:g.166892G>A , LRG_292:g.166892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5300G>A	ENSP00000417241.2:p.Cys1767Tyr
ENST00000470026.6:c.5303G>A	ENSP00000419274.2:p.Cys1768Tyr
ENST00000473961.6:c.5177G>A	ENSP00000420201.2:p.Cys1726Tyr
ENST00000476777.6:c.5297G>A	ENSP00000417554.2:p.Cys1766Tyr
ENST00000477152.6:c.5225G>A	ENSP00000419988.2:p.Cys1742Tyr
ENST00000478531.6:c.1991G>A	ENSP00000420412.2:p.Cys664Tyr
ENST00000489037.2:c.5225G>A	ENSP00000420781.2:p.Cys1742Tyr
ENST00000493919.6:c.1853G>A	ENSP00000418819.2:p.Cys618Tyr
ENST00000494123.6:c.5303G>A	ENSP00000419103.2:p.Cys1768Tyr
ENST00000497488.2:c.4415G>A	ENSP00000418986.2:p.Cys1472Tyr
ENST00000618469.2:c.5303G>A	ENSP00000478114.2:p.Cys1768Tyr
ENST00000634433.2:c.5180G>A	ENSP00000489431.2:p.Cys1727Tyr
ENST00000644379.2:c.5369G>A	ENSP00000496570.2:p.Cys1790Tyr
ENST00000644555.2:c.1853G>A	ENSP00000494614.2:p.Cys618Tyr
ENST00000652672.2:c.5162G>A	ENSP00000498906.2:p.Cys1721Tyr
ENST00000484087.6:c.1865G>A	ENSP00000419481.2:p.Cys622Tyr
ENST00000357654.9:c.5303G>A MANE Select	ENSP00000350283.3:p.Cys1768Tyr
ENST00000471181.7:c.5366G>A	ENSP00000418960.2:p.Cys1789Tyr
ENST00000644379.1:c.1690G>A
ENST00000352993.7:c.1877G>A	ENSP00000312236.5:p.Cys626Tyr
ENST00000357654.7:c.5303G>A	ENSP00000350283.3:p.Cys1768Tyr
ENST00000461221.5:c.*5086G>A	ENSP00000418548.1:n.*5086G>A
ENST00000468300.5:c.1991G>A	ENSP00000417148.1:p.Cys664Tyr
ENST00000471181.6:c.5366G>A	ENSP00000418960.2:p.Cys1789Tyr
ENST00000491747.6:c.1991G>A	ENSP00000420705.2:p.Cys664Tyr
ENST00000493795.5:c.5162G>A	ENSP00000418775.1:p.Cys1721Tyr
ENST00000586385.5:c.233G>A	ENSP00000465818.1:p.Cys78Tyr
ENST00000591534.5:c.776G>A	ENSP00000467329.1:p.Cys259Tyr
ENST00000591849.5:c.-98-902G>A	ENSP00000465347.1:n.-98-902G>A
NM_007294.3:c.5303G>A , LRG_292t1:c.5303G>A	NP_009225.1:p.Cys1768Tyr
NM_007297.3:c.5162G>A	NP_009228.2:p.Cys1721Tyr
NM_007298.3:c.1991G>A	NP_009229.2:p.Cys664Tyr
NM_007299.3:c.1991G>A	NP_009230.2:p.Cys664Tyr
NM_007300.3:c.5366G>A	NP_009231.2:p.Cys1789Tyr
NR_027676.1:n.5439G>A
NM_007294.4:c.5303G>A MANE Select	NP_009225.1:p.Cys1768Tyr
NM_007297.4:c.5162G>A	NP_009228.2:p.Cys1721Tyr
NM_007299.4:c.1991G>A	NP_009230.2:p.Cys664Tyr
NM_007300.4:c.5366G>A	NP_009231.2:p.Cys1789Tyr
NR_027676.2:n.5480G>A