Canonical Allele Identifier: CA002737

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55155
• ClinVar RCV Id: RCV000077569 ; RCV000496798 ; RCV000236776 ; RCV001022156
• dbSNP Id: rs80357305
• MyVariant Identifiers: chr17:g.41234520G>A (hg19) ; chr17:g.43082503G>A (hg38)
• PubMed: PMID:18627636 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082503G>A , CM000679.2:g.43082503G>A	GRCh38
NC_000017.10:g.41234520G>A , CM000679.1:g.41234520G>A	GRCh37
NC_000017.9:g.38488046G>A	NCBI36
NG_005905.2:g.135481C>T , LRG_292:g.135481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4258C>T	ENSP00000417241.2:p.Gln1420Ter
ENST00000470026.6:c.4258C>T	ENSP00000419274.2:p.Gln1420Ter
ENST00000473961.6:c.4132C>T	ENSP00000420201.2:p.Gln1378Ter
ENST00000476777.6:c.4252C>T	ENSP00000417554.2:p.Gln1418Ter
ENST00000477152.6:c.4180C>T	ENSP00000419988.2:p.Gln1394Ter
ENST00000478531.6:c.946C>T	ENSP00000420412.2:p.Gln316Ter
ENST00000489037.2:c.4180C>T	ENSP00000420781.2:p.Gln1394Ter
ENST00000493919.6:c.808C>T	ENSP00000418819.2:p.Gln270Ter
ENST00000494123.6:c.4258C>T	ENSP00000419103.2:p.Gln1420Ter
ENST00000497488.2:c.3370C>T	ENSP00000418986.2:p.Gln1124Ter
ENST00000618469.2:c.4258C>T	ENSP00000478114.2:p.Gln1420Ter
ENST00000634433.2:c.4135C>T	ENSP00000489431.2:p.Gln1379Ter
ENST00000644379.2:c.4258C>T	ENSP00000496570.2:p.Gln1420Ter
ENST00000644555.2:c.808C>T	ENSP00000494614.2:p.Gln270Ter
ENST00000652672.2:c.4117C>T	ENSP00000498906.2:p.Gln1373Ter
ENST00000484087.6:c.823C>T	ENSP00000419481.2:p.Gln275Ter
ENST00000700182.1:c.868C>T	ENSP00000514849.1:p.Gln290Ter
ENST00000357654.9:c.4258C>T MANE Select	ENSP00000350283.3:p.Gln1420Ter
ENST00000471181.7:c.4258C>T	ENSP00000418960.2:p.Gln1420Ter
ENST00000644379.1:c.579C>T
ENST00000352993.7:c.832C>T	ENSP00000312236.5:p.Gln278Ter
ENST00000357654.7:c.4258C>T	ENSP00000350283.3:p.Gln1420Ter
ENST00000461221.5:c.*4041C>T	ENSP00000418548.1:n.*4041C>T
ENST00000461574.1:c.552C>T
ENST00000468300.5:c.949C>T	ENSP00000417148.1:p.Gln317Ter
ENST00000471181.6:c.4258C>T	ENSP00000418960.2:p.Gln1420Ter
ENST00000478531.5:c.946C>T	ENSP00000420412.1:p.Gln316Ter
ENST00000484087.5:c.571C>T	ENSP00000419481.1:p.Gln191Ter
ENST00000487825.5:c.574C>T	ENSP00000418212.1:p.Gln192Ter
ENST00000491747.6:c.949C>T	ENSP00000420705.2:p.Gln317Ter
ENST00000493795.5:c.4117C>T	ENSP00000418775.1:p.Gln1373Ter
ENST00000493919.5:c.808C>T	ENSP00000418819.1:p.Gln270Ter
ENST00000586385.5:c.5-18552C>T	ENSP00000465818.1:n.5-18552C>T
ENST00000591534.5:c.-43-7982C>T	ENSP00000467329.1:n.-43-7982C>T
ENST00000591849.5:c.-98-32313C>T	ENSP00000465347.1:n.-98-32313C>T
ENST00000621897.1:n.152C>T
NM_007294.3:c.4258C>T , LRG_292t1:c.4258C>T	NP_009225.1:p.Gln1420Ter
NM_007297.3:c.4117C>T	NP_009228.2:p.Gln1373Ter
NM_007298.3:c.949C>T	NP_009229.2:p.Gln317Ter
NM_007299.3:c.949C>T	NP_009230.2:p.Gln317Ter
NM_007300.3:c.4258C>T	NP_009231.2:p.Gln1420Ter
NR_027676.1:n.4394C>T
NM_007294.4:c.4258C>T MANE Select	NP_009225.1:p.Gln1420Ter
NM_007297.4:c.4117C>T	NP_009228.2:p.Gln1373Ter
NM_007299.4:c.949C>T	NP_009230.2:p.Gln317Ter
NM_007300.4:c.4258C>T	NP_009231.2:p.Gln1420Ter
NR_027676.2:n.4435C>T