Canonical Allele Identifier: CA10590688

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868046
• ClinVar RCV Id: RCV001076864
• dbSNP Id: rs777371808
• MyVariant Identifiers: chr17:g.41201150G>T (hg19) ; chr17:g.43049133G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5391C>A	ENSP00000417241.2:p.Phe1797Leu
ENST00000470026.6:c.5394C>A	ENSP00000419274.2:p.Phe1798Leu
ENST00000473961.6:c.5268C>A	ENSP00000420201.2:p.Phe1756Leu
ENST00000476777.6:c.5388C>A	ENSP00000417554.2:p.Phe1796Leu
ENST00000477152.6:c.5316C>A	ENSP00000419988.2:p.Phe1772Leu
ENST00000478531.6:c.2082C>A	ENSP00000420412.2:p.Phe694Leu
ENST00000489037.2:c.5316C>A	ENSP00000420781.2:p.Phe1772Leu
ENST00000493919.6:c.1944C>A	ENSP00000418819.2:p.Phe648Leu
ENST00000494123.6:c.5394C>A	ENSP00000419103.2:p.Phe1798Leu
ENST00000497488.2:c.4506C>A	ENSP00000418986.2:p.Phe1502Leu
ENST00000618469.2:c.5394C>A	ENSP00000478114.2:p.Phe1798Leu
ENST00000634433.2:c.5271C>A	ENSP00000489431.2:p.Phe1757Leu
ENST00000644379.2:c.5460C>A	ENSP00000496570.2:p.Phe1820Leu
ENST00000644555.2:c.1944C>A	ENSP00000494614.2:p.Phe648Leu
ENST00000652672.2:c.5253C>A	ENSP00000498906.2:p.Phe1751Leu
ENST00000484087.6:c.1956C>A	ENSP00000419481.2:p.Phe652Leu
ENST00000700081.1:n.1277C>A
ENST00000357654.9:c.5394C>A MANE Select	ENSP00000350283.3:p.Phe1798Leu
ENST00000471181.7:c.5457C>A	ENSP00000418960.2:p.Phe1819Leu
ENST00000644379.1:c.1781C>A
ENST00000352993.7:c.1968C>A	ENSP00000312236.5:p.Phe656Leu
ENST00000357654.7:c.5394C>A	ENSP00000350283.3:p.Phe1798Leu
ENST00000461221.5:c.*5177C>A	ENSP00000418548.1:n.*5177C>A
ENST00000468300.5:c.2021-1430C>A	ENSP00000417148.1:n.2021-1430C>A
ENST00000471181.6:c.5457C>A	ENSP00000418960.2:p.Phe1819Leu
ENST00000491747.6:c.2082C>A	ENSP00000420705.2:p.Phe694Leu
ENST00000493795.5:c.5253C>A	ENSP00000418775.1:p.Phe1751Leu
ENST00000586385.5:c.324C>A	ENSP00000465818.1:p.Phe108Leu
ENST00000591534.5:c.867C>A	ENSP00000467329.1:p.Phe289Leu
ENST00000591849.5:c.93C>A	ENSP00000465347.1:p.Phe31Leu
NM_007294.3:c.5394C>A , LRG_292t1:c.5394C>A	NP_009225.1:p.Phe1798Leu
NM_007297.3:c.5253C>A	NP_009228.2:p.Phe1751Leu
NM_007298.3:c.2082C>A	NP_009229.2:p.Phe694Leu
NM_007299.3:c.2021-1430C>A	NP_009230.2:n.2021-1430C>A
NM_007300.3:c.5457C>A	NP_009231.2:p.Phe1819Leu
NR_027676.1:n.5530C>A
NM_007294.4:c.5394C>A MANE Select	NP_009225.1:p.Phe1798Leu
NM_007297.4:c.5253C>A	NP_009228.2:p.Phe1751Leu
NM_007299.4:c.2021-1430C>A	NP_009230.2:n.2021-1430C>A
NM_007300.4:c.5457C>A	NP_009231.2:p.Phe1819Leu
NR_027676.2:n.5571C>A