Canonical Allele Identifier: CA10590689

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868045
• ClinVar RCV Id: RCV001076863
• dbSNP Id: rs2051076234
• MyVariant Identifiers: chr17:g.41201151A>C (hg19) ; chr17:g.43049134A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049134A>C , CM000679.2:g.43049134A>C	GRCh38
NC_000017.10:g.41201151A>C , CM000679.1:g.41201151A>C	GRCh37
NC_000017.9:g.38454677A>C	NCBI36
NG_005905.2:g.168850T>G , LRG_292:g.168850T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5390T>G	ENSP00000417241.2:p.Phe1797Cys
ENST00000470026.6:c.5393T>G	ENSP00000419274.2:p.Phe1798Cys
ENST00000473961.6:c.5267T>G	ENSP00000420201.2:p.Phe1756Cys
ENST00000476777.6:c.5387T>G	ENSP00000417554.2:p.Phe1796Cys
ENST00000477152.6:c.5315T>G	ENSP00000419988.2:p.Phe1772Cys
ENST00000478531.6:c.2081T>G	ENSP00000420412.2:p.Phe694Cys
ENST00000489037.2:c.5315T>G	ENSP00000420781.2:p.Phe1772Cys
ENST00000493919.6:c.1943T>G	ENSP00000418819.2:p.Phe648Cys
ENST00000494123.6:c.5393T>G	ENSP00000419103.2:p.Phe1798Cys
ENST00000497488.2:c.4505T>G	ENSP00000418986.2:p.Phe1502Cys
ENST00000618469.2:c.5393T>G	ENSP00000478114.2:p.Phe1798Cys
ENST00000634433.2:c.5270T>G	ENSP00000489431.2:p.Phe1757Cys
ENST00000644379.2:c.5459T>G	ENSP00000496570.2:p.Phe1820Cys
ENST00000644555.2:c.1943T>G	ENSP00000494614.2:p.Phe648Cys
ENST00000652672.2:c.5252T>G	ENSP00000498906.2:p.Phe1751Cys
ENST00000484087.6:c.1955T>G	ENSP00000419481.2:p.Phe652Cys
ENST00000700081.1:n.1276T>G
ENST00000357654.9:c.5393T>G MANE Select	ENSP00000350283.3:p.Phe1798Cys
ENST00000471181.7:c.5456T>G	ENSP00000418960.2:p.Phe1819Cys
ENST00000644379.1:c.1780T>G
ENST00000352993.7:c.1967T>G	ENSP00000312236.5:p.Phe656Cys
ENST00000357654.7:c.5393T>G	ENSP00000350283.3:p.Phe1798Cys
ENST00000461221.5:c.*5176T>G	ENSP00000418548.1:n.*5176T>G
ENST00000468300.5:c.2021-1431T>G	ENSP00000417148.1:n.2021-1431T>G
ENST00000471181.6:c.5456T>G	ENSP00000418960.2:p.Phe1819Cys
ENST00000491747.6:c.2081T>G	ENSP00000420705.2:p.Phe694Cys
ENST00000493795.5:c.5252T>G	ENSP00000418775.1:p.Phe1751Cys
ENST00000586385.5:c.323T>G	ENSP00000465818.1:p.Phe108Cys
ENST00000591534.5:c.866T>G	ENSP00000467329.1:p.Phe289Cys
ENST00000591849.5:c.92T>G	ENSP00000465347.1:p.Phe31Cys
NM_007294.3:c.5393T>G , LRG_292t1:c.5393T>G	NP_009225.1:p.Phe1798Cys
NM_007297.3:c.5252T>G	NP_009228.2:p.Phe1751Cys
NM_007298.3:c.2081T>G	NP_009229.2:p.Phe694Cys
NM_007299.3:c.2021-1431T>G	NP_009230.2:n.2021-1431T>G
NM_007300.3:c.5456T>G	NP_009231.2:p.Phe1819Cys
NR_027676.1:n.5529T>G
NM_007294.4:c.5393T>G MANE Select	NP_009225.1:p.Phe1798Cys
NM_007297.4:c.5252T>G	NP_009228.2:p.Phe1751Cys
NM_007299.4:c.2021-1431T>G	NP_009230.2:n.2021-1431T>G
NM_007300.4:c.5456T>G	NP_009231.2:p.Phe1819Cys
NR_027676.2:n.5570T>G