Canonical Allele Identifier: CA10590403

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864913
• ClinVar RCV Id: RCV001072207
• dbSNP Id: rs1597797238
• MyVariant Identifiers: chr17:g.41197818T>A (hg19) ; chr17:g.43045801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045801T>A , CM000679.2:g.43045801T>A	GRCh38
NC_000017.10:g.41197818T>A , CM000679.1:g.41197818T>A	GRCh37
NC_000017.9:g.38451344T>A	NCBI36
NG_005905.2:g.172183A>T , LRG_292:g.172183A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5466A>T	ENSP00000417241.2:p.Ala1822=
ENST00000470026.6:c.5469A>T	ENSP00000419274.2:p.Ala1823=
ENST00000473961.6:c.5343A>T	ENSP00000420201.2:p.Ala1781=
ENST00000476777.6:c.5463A>T	ENSP00000417554.2:p.Ala1821=
ENST00000477152.6:c.5391A>T	ENSP00000419988.2:p.Ala1797=
ENST00000478531.6:c.2157A>T	ENSP00000420412.2:p.Ala719=
ENST00000489037.2:c.5391A>T	ENSP00000420781.2:p.Ala1797=
ENST00000493919.6:c.2019A>T	ENSP00000418819.2:p.Ala673=
ENST00000494123.6:c.5469A>T	ENSP00000419103.2:p.Ala1823=
ENST00000497488.2:c.4581A>T	ENSP00000418986.2:p.Ala1527=
ENST00000618469.2:c.5469A>T	ENSP00000478114.2:p.Ala1823=
ENST00000634433.2:c.5346A>T	ENSP00000489431.2:p.Ala1782=
ENST00000644379.2:c.5535A>T	ENSP00000496570.2:p.Ala1845=
ENST00000644555.2:c.2019A>T	ENSP00000494614.2:p.Ala673=
ENST00000652672.2:c.5328A>T	ENSP00000498906.2:p.Ala1776=
ENST00000484087.6:c.2031A>T	ENSP00000419481.2:p.Ala677=
ENST00000700081.1:n.1352A>T
ENST00000700082.1:n.833A>T
ENST00000357654.9:c.5469A>T MANE Select	ENSP00000350283.3:p.Ala1823=
ENST00000471181.7:c.5532A>T	ENSP00000418960.2:p.Ala1844=
ENST00000644379.1:c.1856A>T
ENST00000352993.7:c.2043A>T	ENSP00000312236.5:p.Ala681=
ENST00000357654.7:c.5469A>T	ENSP00000350283.3:p.Ala1823=
ENST00000461221.5:c.*5252A>T	ENSP00000418548.1:n.*5252A>T
ENST00000468300.5:c.2083A>T	ENSP00000417148.1:p.Asn695Tyr
ENST00000471181.6:c.5532A>T	ENSP00000418960.2:p.Ala1844=
ENST00000491747.6:c.2157A>T	ENSP00000420705.2:p.Ala719=
ENST00000493795.5:c.5328A>T	ENSP00000418775.1:p.Ala1776=
ENST00000586385.5:c.399A>T	ENSP00000465818.1:p.Ala133=
ENST00000591534.5:c.942A>T	ENSP00000467329.1:p.Ala314=
ENST00000591849.5:c.168A>T	ENSP00000465347.1:p.Ala56=
NM_007294.3:c.5469A>T , LRG_292t1:c.5469A>T	NP_009225.1:p.Ala1823=
NM_007297.3:c.5328A>T	NP_009228.2:p.Ala1776=
NM_007298.3:c.2157A>T	NP_009229.2:p.Ala719=
NM_007299.3:c.2083A>T	NP_009230.2:p.Asn695Tyr
NM_007300.3:c.5532A>T	NP_009231.2:p.Ala1844=
NR_027676.1:n.5605A>T
NM_007294.4:c.5469A>T MANE Select	NP_009225.1:p.Ala1823=
NM_007297.4:c.5328A>T	NP_009228.2:p.Ala1776=
NM_007299.4:c.2083A>T	NP_009230.2:p.Asn695Tyr
NM_007300.4:c.5532A>T	NP_009231.2:p.Ala1844=
NR_027676.2:n.5646A>T