Canonical Allele Identifier: CA10591111

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479223
• ClinVar RCV Id: RCV001372578
• dbSNP Id: rs80357283
• gnomAD v4: 17-43057114-C-T
• MyVariant Identifiers: chr17:g.41209131C>T (hg19) ; chr17:g.43057114C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5212G>A	ENSP00000417241.2:p.Asp1738Asn
ENST00000470026.6:c.5215G>A	ENSP00000419274.2:p.Asp1739Asn
ENST00000473961.6:c.5089G>A	ENSP00000420201.2:p.Asp1697Asn
ENST00000476777.6:c.5209G>A	ENSP00000417554.2:p.Asp1737Asn
ENST00000477152.6:c.5137G>A	ENSP00000419988.2:p.Asp1713Asn
ENST00000478531.6:c.1903G>A	ENSP00000420412.2:p.Asp635Asn
ENST00000489037.2:c.5137G>A	ENSP00000420781.2:p.Asp1713Asn
ENST00000493919.6:c.1765G>A	ENSP00000418819.2:p.Asp589Asn
ENST00000494123.6:c.5215G>A	ENSP00000419103.2:p.Asp1739Asn
ENST00000497488.2:c.4327G>A	ENSP00000418986.2:p.Asp1443Asn
ENST00000618469.2:c.5215G>A	ENSP00000478114.2:p.Asp1739Asn
ENST00000634433.2:c.5092G>A	ENSP00000489431.2:p.Asp1698Asn
ENST00000644379.2:c.5281G>A	ENSP00000496570.2:p.Asp1761Asn
ENST00000644555.2:c.1765G>A	ENSP00000494614.2:p.Asp589Asn
ENST00000652672.2:c.5074G>A	ENSP00000498906.2:p.Asp1692Asn
ENST00000484087.6:c.1777G>A	ENSP00000419481.2:p.Asp593Asn
ENST00000357654.9:c.5215G>A MANE Select	ENSP00000350283.3:p.Asp1739Asn
ENST00000471181.7:c.5278G>A	ENSP00000418960.2:p.Asp1760Asn
ENST00000644379.1:c.1602G>A
ENST00000352993.7:c.1789G>A	ENSP00000312236.5:p.Asp597Asn
ENST00000357654.7:c.5215G>A	ENSP00000350283.3:p.Asp1739Asn
ENST00000461221.5:c.*4998G>A	ENSP00000418548.1:n.*4998G>A
ENST00000468300.5:c.1903G>A	ENSP00000417148.1:p.Asp635Asn
ENST00000471181.6:c.5278G>A	ENSP00000418960.2:p.Asp1760Asn
ENST00000491747.6:c.1903G>A	ENSP00000420705.2:p.Asp635Asn
ENST00000493795.5:c.5074G>A	ENSP00000418775.1:p.Asp1692Asn
ENST00000586385.5:c.145G>A	ENSP00000465818.1:p.Asp49Asn
ENST00000591534.5:c.688G>A	ENSP00000467329.1:p.Asp230Asn
ENST00000591849.5:c.-98-6924G>A	ENSP00000465347.1:n.-98-6924G>A
NM_007294.3:c.5215G>A , LRG_292t1:c.5215G>A	NP_009225.1:p.Asp1739Asn
NM_007297.3:c.5074G>A	NP_009228.2:p.Asp1692Asn
NM_007298.3:c.1903G>A	NP_009229.2:p.Asp635Asn
NM_007299.3:c.1903G>A	NP_009230.2:p.Asp635Asn
NM_007300.3:c.5278G>A	NP_009231.2:p.Asp1760Asn
NR_027676.1:n.5351G>A
NM_007294.4:c.5215G>A MANE Select	NP_009225.1:p.Asp1739Asn
NM_007297.4:c.5074G>A	NP_009228.2:p.Asp1692Asn
NM_007299.4:c.1903G>A	NP_009230.2:p.Asp635Asn
NM_007300.4:c.5278G>A	NP_009231.2:p.Asp1760Asn
NR_027676.2:n.5392G>A