Canonical Allele Identifier: CA003694

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37681
• ClinVar RCV Id: RCV002513284
• dbSNP Id: rs80357299
• MyVariant Identifiers: chr17:g.41197766T>G (hg19) ; chr17:g.43045749T>G (hg38)
• PubMed: PMID:20516115 ; PMID:23522120

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045749T>G , CM000679.2:g.43045749T>G	GRCh38
NC_000017.10:g.41197766T>G , CM000679.1:g.41197766T>G	GRCh37
NC_000017.9:g.38451292T>G	NCBI36
NG_005905.2:g.172235A>C , LRG_292:g.172235A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5518A>C	ENSP00000417241.2:p.Ser1840Arg
ENST00000470026.6:c.5521A>C	ENSP00000419274.2:p.Ser1841Arg
ENST00000473961.6:c.5395A>C	ENSP00000420201.2:p.Ser1799Arg
ENST00000476777.6:c.5515A>C	ENSP00000417554.2:p.Ser1839Arg
ENST00000477152.6:c.5443A>C	ENSP00000419988.2:p.Ser1815Arg
ENST00000478531.6:c.2209A>C	ENSP00000420412.2:p.Ser737Arg
ENST00000489037.2:c.5443A>C	ENSP00000420781.2:p.Ser1815Arg
ENST00000493919.6:c.2071A>C	ENSP00000418819.2:p.Ser691Arg
ENST00000494123.6:c.5521A>C	ENSP00000419103.2:p.Ser1841Arg
ENST00000497488.2:c.4633A>C	ENSP00000418986.2:p.Ser1545Arg
ENST00000618469.2:c.5521A>C	ENSP00000478114.2:p.Ser1841Arg
ENST00000634433.2:c.5398A>C	ENSP00000489431.2:p.Ser1800Arg
ENST00000644379.2:c.5587A>C	ENSP00000496570.2:p.Ser1863Arg
ENST00000644555.2:c.2071A>C	ENSP00000494614.2:p.Ser691Arg
ENST00000652672.2:c.5380A>C	ENSP00000498906.2:p.Ser1794Arg
ENST00000484087.6:c.2083A>C	ENSP00000419481.2:p.Ser695Arg
ENST00000700081.1:n.1404A>C
ENST00000700082.1:n.885A>C
ENST00000357654.9:c.5521A>C MANE Select	ENSP00000350283.3:p.Ser1841Arg
ENST00000471181.7:c.5584A>C	ENSP00000418960.2:p.Ser1862Arg
ENST00000644379.1:c.1908A>C
ENST00000352993.7:c.2095A>C	ENSP00000312236.5:p.Ser699Arg
ENST00000357654.7:c.5521A>C	ENSP00000350283.3:p.Ser1841Arg
ENST00000461221.5:c.*5304A>C	ENSP00000418548.1:n.*5304A>C
ENST00000468300.5:c.*35A>C	ENSP00000417148.1:n.*35A>C
ENST00000471181.6:c.5584A>C	ENSP00000418960.2:p.Ser1862Arg
ENST00000491747.6:c.2209A>C	ENSP00000420705.2:p.Ser737Arg
ENST00000493795.5:c.5380A>C	ENSP00000418775.1:p.Ser1794Arg
ENST00000586385.5:c.451A>C	ENSP00000465818.1:p.Ser151Arg
ENST00000591534.5:c.994A>C	ENSP00000467329.1:p.Ser332Arg
ENST00000591849.5:c.220A>C	ENSP00000465347.1:p.Ser74Arg
NM_007294.3:c.5521A>C , LRG_292t1:c.5521A>C	NP_009225.1:p.Ser1841Arg
NM_007297.3:c.5380A>C	NP_009228.2:p.Ser1794Arg
NM_007298.3:c.2209A>C	NP_009229.2:p.Ser737Arg
NM_007299.3:c.*35A>C	NP_009230.2:n.*35A>C
NM_007300.3:c.5584A>C	NP_009231.2:p.Ser1862Arg
NR_027676.1:n.5657A>C
NM_007294.4:c.5521A>C MANE Select	NP_009225.1:p.Ser1841Arg
NM_007297.4:c.5380A>C	NP_009228.2:p.Ser1794Arg
NM_007299.4:c.*35A>C	NP_009230.2:n.*35A>C
NM_007300.4:c.5584A>C	NP_009231.2:p.Ser1862Arg
NR_027676.2:n.5698A>C