Canonical Allele Identifier: CA003366

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55464
• ClinVar RCV Id: RCV000112568
• dbSNP Id: rs80357283
• MyVariant Identifiers: chr17:g.41209131C>A (hg19) ; chr17:g.43057114C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057114C>A , CM000679.2:g.43057114C>A	GRCh38
NC_000017.10:g.41209131C>A , CM000679.1:g.41209131C>A	GRCh37
NC_000017.9:g.38462657C>A	NCBI36
NG_005905.2:g.160870G>T , LRG_292:g.160870G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5212G>T	ENSP00000417241.2:p.Asp1738Tyr
ENST00000470026.6:c.5215G>T	ENSP00000419274.2:p.Asp1739Tyr
ENST00000473961.6:c.5089G>T	ENSP00000420201.2:p.Asp1697Tyr
ENST00000476777.6:c.5209G>T	ENSP00000417554.2:p.Asp1737Tyr
ENST00000477152.6:c.5137G>T	ENSP00000419988.2:p.Asp1713Tyr
ENST00000478531.6:c.1903G>T	ENSP00000420412.2:p.Asp635Tyr
ENST00000489037.2:c.5137G>T	ENSP00000420781.2:p.Asp1713Tyr
ENST00000493919.6:c.1765G>T	ENSP00000418819.2:p.Asp589Tyr
ENST00000494123.6:c.5215G>T	ENSP00000419103.2:p.Asp1739Tyr
ENST00000497488.2:c.4327G>T	ENSP00000418986.2:p.Asp1443Tyr
ENST00000618469.2:c.5215G>T	ENSP00000478114.2:p.Asp1739Tyr
ENST00000634433.2:c.5092G>T	ENSP00000489431.2:p.Asp1698Tyr
ENST00000644379.2:c.5281G>T	ENSP00000496570.2:p.Asp1761Tyr
ENST00000644555.2:c.1765G>T	ENSP00000494614.2:p.Asp589Tyr
ENST00000652672.2:c.5074G>T	ENSP00000498906.2:p.Asp1692Tyr
ENST00000484087.6:c.1777G>T	ENSP00000419481.2:p.Asp593Tyr
ENST00000357654.9:c.5215G>T MANE Select	ENSP00000350283.3:p.Asp1739Tyr
ENST00000471181.7:c.5278G>T	ENSP00000418960.2:p.Asp1760Tyr
ENST00000644379.1:c.1602G>T
ENST00000352993.7:c.1789G>T	ENSP00000312236.5:p.Asp597Tyr
ENST00000357654.7:c.5215G>T	ENSP00000350283.3:p.Asp1739Tyr
ENST00000461221.5:c.*4998G>T	ENSP00000418548.1:n.*4998G>T
ENST00000468300.5:c.1903G>T	ENSP00000417148.1:p.Asp635Tyr
ENST00000471181.6:c.5278G>T	ENSP00000418960.2:p.Asp1760Tyr
ENST00000491747.6:c.1903G>T	ENSP00000420705.2:p.Asp635Tyr
ENST00000493795.5:c.5074G>T	ENSP00000418775.1:p.Asp1692Tyr
ENST00000586385.5:c.145G>T	ENSP00000465818.1:p.Asp49Tyr
ENST00000591534.5:c.688G>T	ENSP00000467329.1:p.Asp230Tyr
ENST00000591849.5:c.-98-6924G>T	ENSP00000465347.1:n.-98-6924G>T
NM_007294.3:c.5215G>T , LRG_292t1:c.5215G>T	NP_009225.1:p.Asp1739Tyr
NM_007297.3:c.5074G>T	NP_009228.2:p.Asp1692Tyr
NM_007298.3:c.1903G>T	NP_009229.2:p.Asp635Tyr
NM_007299.3:c.1903G>T	NP_009230.2:p.Asp635Tyr
NM_007300.3:c.5278G>T	NP_009231.2:p.Asp1760Tyr
NR_027676.1:n.5351G>T
NM_007294.4:c.5215G>T MANE Select	NP_009225.1:p.Asp1739Tyr
NM_007297.4:c.5074G>T	NP_009228.2:p.Asp1692Tyr
NM_007299.4:c.1903G>T	NP_009230.2:p.Asp635Tyr
NM_007300.4:c.5278G>T	NP_009231.2:p.Asp1760Tyr
NR_027676.2:n.5392G>T