Canonical Allele Identifier: CA003368

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55466
• ClinVar RCV Id: RCV000520251 ; RCV000614231 ; RCV001378028
• dbSNP Id: rs80357227
• COSMIC: COSM5752692 ; COSM5752693
• MyVariant Identifiers: chr17:g.41209130T>A (hg19) ; chr17:g.43057113T>A (hg38)
• PubMed: PMID:10200350 ; PMID:11410501 ; PMID:20516115 ; PMID:22469508 ; PMID:23867111

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057113T>A , CM000679.2:g.43057113T>A	GRCh38
NC_000017.10:g.41209130T>A , CM000679.1:g.41209130T>A	GRCh37
NC_000017.9:g.38462656T>A	NCBI36
NG_005905.2:g.160871A>T , LRG_292:g.160871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5213A>T	ENSP00000417241.2:p.Asp1738Val
ENST00000470026.6:c.5216A>T	ENSP00000419274.2:p.Asp1739Val
ENST00000473961.6:c.5090A>T	ENSP00000420201.2:p.Asp1697Val
ENST00000476777.6:c.5210A>T	ENSP00000417554.2:p.Asp1737Val
ENST00000477152.6:c.5138A>T	ENSP00000419988.2:p.Asp1713Val
ENST00000478531.6:c.1904A>T	ENSP00000420412.2:p.Asp635Val
ENST00000489037.2:c.5138A>T	ENSP00000420781.2:p.Asp1713Val
ENST00000493919.6:c.1766A>T	ENSP00000418819.2:p.Asp589Val
ENST00000494123.6:c.5216A>T	ENSP00000419103.2:p.Asp1739Val
ENST00000497488.2:c.4328A>T	ENSP00000418986.2:p.Asp1443Val
ENST00000618469.2:c.5216A>T	ENSP00000478114.2:p.Asp1739Val
ENST00000634433.2:c.5093A>T	ENSP00000489431.2:p.Asp1698Val
ENST00000644379.2:c.5282A>T	ENSP00000496570.2:p.Asp1761Val
ENST00000644555.2:c.1766A>T	ENSP00000494614.2:p.Asp589Val
ENST00000652672.2:c.5075A>T	ENSP00000498906.2:p.Asp1692Val
ENST00000484087.6:c.1778A>T	ENSP00000419481.2:p.Asp593Val
ENST00000357654.9:c.5216A>T MANE Select	ENSP00000350283.3:p.Asp1739Val
ENST00000471181.7:c.5279A>T	ENSP00000418960.2:p.Asp1760Val
ENST00000644379.1:c.1603A>T
ENST00000352993.7:c.1790A>T	ENSP00000312236.5:p.Asp597Val
ENST00000357654.7:c.5216A>T	ENSP00000350283.3:p.Asp1739Val
ENST00000461221.5:c.*4999A>T	ENSP00000418548.1:n.*4999A>T
ENST00000468300.5:c.1904A>T	ENSP00000417148.1:p.Asp635Val
ENST00000471181.6:c.5279A>T	ENSP00000418960.2:p.Asp1760Val
ENST00000491747.6:c.1904A>T	ENSP00000420705.2:p.Asp635Val
ENST00000493795.5:c.5075A>T	ENSP00000418775.1:p.Asp1692Val
ENST00000586385.5:c.146A>T	ENSP00000465818.1:p.Asp49Val
ENST00000591534.5:c.689A>T	ENSP00000467329.1:p.Asp230Val
ENST00000591849.5:c.-98-6923A>T	ENSP00000465347.1:n.-98-6923A>T
NM_007294.3:c.5216A>T , LRG_292t1:c.5216A>T	NP_009225.1:p.Asp1739Val
NM_007297.3:c.5075A>T	NP_009228.2:p.Asp1692Val
NM_007298.3:c.1904A>T	NP_009229.2:p.Asp635Val
NM_007299.3:c.1904A>T	NP_009230.2:p.Asp635Val
NM_007300.3:c.5279A>T	NP_009231.2:p.Asp1760Val
NR_027676.1:n.5352A>T
NM_007294.4:c.5216A>T MANE Select	NP_009225.1:p.Asp1739Val
NM_007297.4:c.5075A>T	NP_009228.2:p.Asp1692Val
NM_007299.4:c.1904A>T	NP_009230.2:p.Asp635Val
NM_007300.4:c.5279A>T	NP_009231.2:p.Asp1760Val
NR_027676.2:n.5393A>T