Canonical Allele Identifier: CA002705

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55139
• ClinVar RCV Id: RCV000077567 ; RCV000657618 ; RCV001853007 ; RCV000581666
• dbSNP Id: rs397509151
• MyVariant Identifiers: chr17:g.41234577G>A (hg19) ; chr17:g.43082560G>A (hg38)
• PubMed: PMID:21120943

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082560G>A , CM000679.2:g.43082560G>A	GRCh38
NC_000017.10:g.41234577G>A , CM000679.1:g.41234577G>A	GRCh37
NC_000017.9:g.38488103G>A	NCBI36
NG_005905.2:g.135424C>T , LRG_292:g.135424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4201C>T	ENSP00000417241.2:p.Gln1401Ter
ENST00000470026.6:c.4201C>T	ENSP00000419274.2:p.Gln1401Ter
ENST00000473961.6:c.4075C>T	ENSP00000420201.2:p.Gln1359Ter
ENST00000476777.6:c.4195C>T	ENSP00000417554.2:p.Gln1399Ter
ENST00000477152.6:c.4123C>T	ENSP00000419988.2:p.Gln1375Ter
ENST00000478531.6:c.889C>T	ENSP00000420412.2:p.Gln297Ter
ENST00000489037.2:c.4123C>T	ENSP00000420781.2:p.Gln1375Ter
ENST00000493919.6:c.751C>T	ENSP00000418819.2:p.Gln251Ter
ENST00000494123.6:c.4201C>T	ENSP00000419103.2:p.Gln1401Ter
ENST00000497488.2:c.3313C>T	ENSP00000418986.2:p.Gln1105Ter
ENST00000618469.2:c.4201C>T	ENSP00000478114.2:p.Gln1401Ter
ENST00000634433.2:c.4078C>T	ENSP00000489431.2:p.Gln1360Ter
ENST00000644379.2:c.4201C>T	ENSP00000496570.2:p.Gln1401Ter
ENST00000644555.2:c.751C>T	ENSP00000494614.2:p.Gln251Ter
ENST00000652672.2:c.4060C>T	ENSP00000498906.2:p.Gln1354Ter
ENST00000484087.6:c.766C>T	ENSP00000419481.2:p.Gln256Ter
ENST00000700182.1:c.811C>T	ENSP00000514849.1:p.Gln271Ter
ENST00000357654.9:c.4201C>T MANE Select	ENSP00000350283.3:p.Gln1401Ter
ENST00000471181.7:c.4201C>T	ENSP00000418960.2:p.Gln1401Ter
ENST00000644379.1:c.522C>T
ENST00000352993.7:c.775C>T	ENSP00000312236.5:p.Gln259Ter
ENST00000357654.7:c.4201C>T	ENSP00000350283.3:p.Gln1401Ter
ENST00000461221.5:c.*3984C>T	ENSP00000418548.1:n.*3984C>T
ENST00000461574.1:c.495C>T
ENST00000468300.5:c.892C>T	ENSP00000417148.1:p.Gln298Ter
ENST00000471181.6:c.4201C>T	ENSP00000418960.2:p.Gln1401Ter
ENST00000478531.5:c.889C>T	ENSP00000420412.1:p.Gln297Ter
ENST00000484087.5:c.514C>T	ENSP00000419481.1:p.Gln172Ter
ENST00000487825.5:c.517C>T	ENSP00000418212.1:p.Gln173Ter
ENST00000491747.6:c.892C>T	ENSP00000420705.2:p.Gln298Ter
ENST00000493795.5:c.4060C>T	ENSP00000418775.1:p.Gln1354Ter
ENST00000493919.5:c.751C>T	ENSP00000418819.1:p.Gln251Ter
ENST00000586385.5:c.5-18609C>T	ENSP00000465818.1:n.5-18609C>T
ENST00000591534.5:c.-43-8039C>T	ENSP00000467329.1:n.-43-8039C>T
ENST00000591849.5:c.-98-32370C>T	ENSP00000465347.1:n.-98-32370C>T
ENST00000621897.1:n.95C>T
NM_007294.3:c.4201C>T , LRG_292t1:c.4201C>T	NP_009225.1:p.Gln1401Ter
NM_007297.3:c.4060C>T	NP_009228.2:p.Gln1354Ter
NM_007298.3:c.892C>T	NP_009229.2:p.Gln298Ter
NM_007299.3:c.892C>T	NP_009230.2:p.Gln298Ter
NM_007300.3:c.4201C>T	NP_009231.2:p.Gln1401Ter
NR_027676.1:n.4337C>T
NM_007294.4:c.4201C>T MANE Select	NP_009225.1:p.Gln1401Ter
NM_007297.4:c.4060C>T	NP_009228.2:p.Gln1354Ter
NM_007299.4:c.892C>T	NP_009230.2:p.Gln298Ter
NM_007300.4:c.4201C>T	NP_009231.2:p.Gln1401Ter
NR_027676.2:n.4378C>T