Canonical Allele Identifier: CA003511

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55542
• ClinVar RCV Id: RCV000083220 ; RCV001270977 ; RCV003529971
• dbSNP Id: rs397509268
• MyVariant Identifiers: chr17:g.41201203C>A (hg19) ; chr17:g.43049186C>A (hg38)
• PubMed: PMID:20727672

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049186C>A , CM000679.2:g.43049186C>A	GRCh38
NC_000017.10:g.41201203C>A , CM000679.1:g.41201203C>A	GRCh37
NC_000017.9:g.38454729C>A	NCBI36
NG_005905.2:g.168798G>T , LRG_292:g.168798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5338G>T	ENSP00000417241.2:p.Glu1780Ter
ENST00000470026.6:c.5341G>T	ENSP00000419274.2:p.Glu1781Ter
ENST00000473961.6:c.5215G>T	ENSP00000420201.2:p.Glu1739Ter
ENST00000476777.6:c.5335G>T	ENSP00000417554.2:p.Glu1779Ter
ENST00000477152.6:c.5263G>T	ENSP00000419988.2:p.Glu1755Ter
ENST00000478531.6:c.2029G>T	ENSP00000420412.2:p.Glu677Ter
ENST00000489037.2:c.5263G>T	ENSP00000420781.2:p.Glu1755Ter
ENST00000493919.6:c.1891G>T	ENSP00000418819.2:p.Glu631Ter
ENST00000494123.6:c.5341G>T	ENSP00000419103.2:p.Glu1781Ter
ENST00000497488.2:c.4453G>T	ENSP00000418986.2:p.Glu1485Ter
ENST00000618469.2:c.5341G>T	ENSP00000478114.2:p.Glu1781Ter
ENST00000634433.2:c.5218G>T	ENSP00000489431.2:p.Glu1740Ter
ENST00000644379.2:c.5407G>T	ENSP00000496570.2:p.Glu1803Ter
ENST00000644555.2:c.1891G>T	ENSP00000494614.2:p.Glu631Ter
ENST00000652672.2:c.5200G>T	ENSP00000498906.2:p.Glu1734Ter
ENST00000484087.6:c.1903G>T	ENSP00000419481.2:p.Glu635Ter
ENST00000700081.1:n.1224G>T
ENST00000357654.9:c.5341G>T MANE Select	ENSP00000350283.3:p.Glu1781Ter
ENST00000471181.7:c.5404G>T	ENSP00000418960.2:p.Glu1802Ter
ENST00000644379.1:c.1728G>T
ENST00000352993.7:c.1915G>T	ENSP00000312236.5:p.Glu639Ter
ENST00000357654.7:c.5341G>T	ENSP00000350283.3:p.Glu1781Ter
ENST00000461221.5:c.*5124G>T	ENSP00000418548.1:n.*5124G>T
ENST00000468300.5:c.2021-1483G>T	ENSP00000417148.1:n.2021-1483G>T
ENST00000471181.6:c.5404G>T	ENSP00000418960.2:p.Glu1802Ter
ENST00000491747.6:c.2029G>T	ENSP00000420705.2:p.Glu677Ter
ENST00000493795.5:c.5200G>T	ENSP00000418775.1:p.Glu1734Ter
ENST00000586385.5:c.271G>T	ENSP00000465818.1:p.Glu91Ter
ENST00000591534.5:c.814G>T	ENSP00000467329.1:p.Glu272Ter
ENST00000591849.5:c.40G>T	ENSP00000465347.1:p.Glu14Ter
NM_007294.3:c.5341G>T , LRG_292t1:c.5341G>T	NP_009225.1:p.Glu1781Ter
NM_007297.3:c.5200G>T	NP_009228.2:p.Glu1734Ter
NM_007298.3:c.2029G>T	NP_009229.2:p.Glu677Ter
NM_007299.3:c.2021-1483G>T	NP_009230.2:n.2021-1483G>T
NM_007300.3:c.5404G>T	NP_009231.2:p.Glu1802Ter
NR_027676.1:n.5477G>T
NM_007294.4:c.5341G>T MANE Select	NP_009225.1:p.Glu1781Ter
NM_007297.4:c.5200G>T	NP_009228.2:p.Glu1734Ter
NM_007299.4:c.2021-1483G>T	NP_009230.2:n.2021-1483G>T
NM_007300.4:c.5404G>T	NP_009231.2:p.Glu1802Ter
NR_027676.2:n.5518G>T