Canonical Allele Identifier: CA054819

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427362
• ClinVar RCV Id: RCV000494828
• dbSNP Id: rs777371808
• ExAC: 17:41201150 G / A
• gnomAD v2: 17-41201150-G-A
• gnomAD v4: 17-43049133-G-A
• MyVariant Identifiers: chr17:g.41201150G>A (hg19) ; chr17:g.43049133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049133G>A , CM000679.2:g.43049133G>A	GRCh38
NC_000017.10:g.41201150G>A , CM000679.1:g.41201150G>A	GRCh37
NC_000017.9:g.38454676G>A	NCBI36
NG_005905.2:g.168851C>T , LRG_292:g.168851C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5391C>T	ENSP00000417241.2:p.Phe1797=
ENST00000470026.6:c.5394C>T	ENSP00000419274.2:p.Phe1798=
ENST00000473961.6:c.5268C>T	ENSP00000420201.2:p.Phe1756=
ENST00000476777.6:c.5388C>T	ENSP00000417554.2:p.Phe1796=
ENST00000477152.6:c.5316C>T	ENSP00000419988.2:p.Phe1772=
ENST00000478531.6:c.2082C>T	ENSP00000420412.2:p.Phe694=
ENST00000489037.2:c.5316C>T	ENSP00000420781.2:p.Phe1772=
ENST00000493919.6:c.1944C>T	ENSP00000418819.2:p.Phe648=
ENST00000494123.6:c.5394C>T	ENSP00000419103.2:p.Phe1798=
ENST00000497488.2:c.4506C>T	ENSP00000418986.2:p.Phe1502=
ENST00000618469.2:c.5394C>T	ENSP00000478114.2:p.Phe1798=
ENST00000634433.2:c.5271C>T	ENSP00000489431.2:p.Phe1757=
ENST00000644379.2:c.5460C>T	ENSP00000496570.2:p.Phe1820=
ENST00000644555.2:c.1944C>T	ENSP00000494614.2:p.Phe648=
ENST00000652672.2:c.5253C>T	ENSP00000498906.2:p.Phe1751=
ENST00000484087.6:c.1956C>T	ENSP00000419481.2:p.Phe652=
ENST00000700081.1:n.1277C>T
ENST00000357654.9:c.5394C>T MANE Select	ENSP00000350283.3:p.Phe1798=
ENST00000471181.7:c.5457C>T	ENSP00000418960.2:p.Phe1819=
ENST00000644379.1:c.1781C>T
ENST00000352993.7:c.1968C>T	ENSP00000312236.5:p.Phe656=
ENST00000357654.7:c.5394C>T	ENSP00000350283.3:p.Phe1798=
ENST00000461221.5:c.*5177C>T	ENSP00000418548.1:n.*5177C>T
ENST00000468300.5:c.2021-1430C>T	ENSP00000417148.1:n.2021-1430C>T
ENST00000471181.6:c.5457C>T	ENSP00000418960.2:p.Phe1819=
ENST00000491747.6:c.2082C>T	ENSP00000420705.2:p.Phe694=
ENST00000493795.5:c.5253C>T	ENSP00000418775.1:p.Phe1751=
ENST00000586385.5:c.324C>T	ENSP00000465818.1:p.Phe108=
ENST00000591534.5:c.867C>T	ENSP00000467329.1:p.Phe289=
ENST00000591849.5:c.93C>T	ENSP00000465347.1:p.Phe31=
NM_007294.3:c.5394C>T , LRG_292t1:c.5394C>T	NP_009225.1:p.Phe1798=
NM_007297.3:c.5253C>T	NP_009228.2:p.Phe1751=
NM_007298.3:c.2082C>T	NP_009229.2:p.Phe694=
NM_007299.3:c.2021-1430C>T	NP_009230.2:n.2021-1430C>T
NM_007300.3:c.5457C>T	NP_009231.2:p.Phe1819=
NR_027676.1:n.5530C>T
NM_007294.4:c.5394C>T MANE Select	NP_009225.1:p.Phe1798=
NM_007297.4:c.5253C>T	NP_009228.2:p.Phe1751=
NM_007299.4:c.2021-1430C>T	NP_009230.2:n.2021-1430C>T
NM_007300.4:c.5457C>T	NP_009231.2:p.Phe1819=
NR_027676.2:n.5571C>T