Canonical Allele Identifier: CA002808

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55185
• ClinVar RCV Id: RCV000213599 ; RCV000174570 ; RCV001175599 ; RCV003644888
• dbSNP Id: rs397509167
• gnomAD v4: 17-43076593-C-T
• MyVariant Identifiers: chr17:g.41228610C>T (hg19) ; chr17:g.43076593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076593C>T , CM000679.2:g.43076593C>T	GRCh38
NC_000017.10:g.41228610C>T , CM000679.1:g.41228610C>T	GRCh37
NC_000017.9:g.38482136C>T	NCBI36
NG_005905.2:g.141391G>A , LRG_292:g.141391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4376G>A	ENSP00000417241.2:p.Ser1459Asn
ENST00000470026.6:c.4379G>A	ENSP00000419274.2:p.Ser1460Asn
ENST00000473961.6:c.4253G>A	ENSP00000420201.2:p.Ser1418Asn
ENST00000476777.6:c.4373G>A	ENSP00000417554.2:p.Ser1458Asn
ENST00000477152.6:c.4301G>A	ENSP00000419988.2:p.Ser1434Asn
ENST00000478531.6:c.1067G>A	ENSP00000420412.2:p.Ser356Asn
ENST00000489037.2:c.4301G>A	ENSP00000420781.2:p.Ser1434Asn
ENST00000493919.6:c.929G>A	ENSP00000418819.2:p.Ser310Asn
ENST00000494123.6:c.4379G>A	ENSP00000419103.2:p.Ser1460Asn
ENST00000497488.2:c.3491G>A	ENSP00000418986.2:p.Ser1164Asn
ENST00000618469.2:c.4379G>A	ENSP00000478114.2:p.Ser1460Asn
ENST00000634433.2:c.4256G>A	ENSP00000489431.2:p.Ser1419Asn
ENST00000644379.2:c.4445G>A	ENSP00000496570.2:p.Ser1482Asn
ENST00000644555.2:c.929G>A	ENSP00000494614.2:p.Ser310Asn
ENST00000652672.2:c.4238G>A	ENSP00000498906.2:p.Ser1413Asn
ENST00000484087.6:c.941G>A	ENSP00000419481.2:p.Ser314Asn
ENST00000700182.1:c.986G>A	ENSP00000514849.1:p.Ser329Asn
ENST00000357654.9:c.4379G>A MANE Select	ENSP00000350283.3:p.Ser1460Asn
ENST00000471181.7:c.4442G>A	ENSP00000418960.2:p.Ser1481Asn
ENST00000644379.1:c.766G>A
ENST00000352993.7:c.953G>A	ENSP00000312236.5:p.Ser318Asn
ENST00000357654.7:c.4379G>A	ENSP00000350283.3:p.Ser1460Asn
ENST00000461221.5:c.*4162G>A	ENSP00000418548.1:n.*4162G>A
ENST00000461574.1:c.670G>A
ENST00000468300.5:c.1067G>A	ENSP00000417148.1:p.Ser356Asn
ENST00000471181.6:c.4442G>A	ENSP00000418960.2:p.Ser1481Asn
ENST00000478531.5:c.1067G>A	ENSP00000420412.1:p.Ser356Asn
ENST00000484087.5:c.692G>A	ENSP00000419481.1:p.Ser231Asn
ENST00000487825.5:c.695G>A	ENSP00000418212.1:p.Ser232Asn
ENST00000491747.6:c.1067G>A	ENSP00000420705.2:p.Ser356Asn
ENST00000493795.5:c.4238G>A	ENSP00000418775.1:p.Ser1413Asn
ENST00000493919.5:c.929G>A	ENSP00000418819.1:p.Ser310Asn
ENST00000586385.5:c.5-12642G>A	ENSP00000465818.1:n.5-12642G>A
ENST00000591534.5:c.-43-2072G>A	ENSP00000467329.1:n.-43-2072G>A
ENST00000591849.5:c.-98-26403G>A	ENSP00000465347.1:n.-98-26403G>A
ENST00000621897.1:n.270G>A
NM_007294.3:c.4379G>A , LRG_292t1:c.4379G>A	NP_009225.1:p.Ser1460Asn
NM_007297.3:c.4238G>A	NP_009228.2:p.Ser1413Asn
NM_007298.3:c.1067G>A	NP_009229.2:p.Ser356Asn
NM_007299.3:c.1067G>A	NP_009230.2:p.Ser356Asn
NM_007300.3:c.4442G>A	NP_009231.2:p.Ser1481Asn
NR_027676.1:n.4515G>A
NM_007294.4:c.4379G>A MANE Select	NP_009225.1:p.Ser1460Asn
NM_007297.4:c.4238G>A	NP_009228.2:p.Ser1413Asn
NM_007299.4:c.1067G>A	NP_009230.2:p.Ser356Asn
NM_007300.4:c.4442G>A	NP_009231.2:p.Ser1481Asn
NR_027676.2:n.4556G>A