Canonical Allele Identifier: CA10590442

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868105
• ClinVar RCV Id: RCV001076931
• dbSNP Id: rs2050978032
• MyVariant Identifiers: chr17:g.41199666A>C (hg19) ; chr17:g.43047649A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047649A>C , CM000679.2:g.43047649A>C	GRCh38
NC_000017.10:g.41199666A>C , CM000679.1:g.41199666A>C	GRCh37
NC_000017.9:g.38453192A>C	NCBI36
NG_005905.2:g.170335T>G , LRG_292:g.170335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5458T>G	ENSP00000417241.2:p.Phe1820Val
ENST00000470026.6:c.5461T>G	ENSP00000419274.2:p.Phe1821Val
ENST00000473961.6:c.5335T>G	ENSP00000420201.2:p.Phe1779Val
ENST00000476777.6:c.5455T>G	ENSP00000417554.2:p.Phe1819Val
ENST00000477152.6:c.5383T>G	ENSP00000419988.2:p.Phe1795Val
ENST00000478531.6:c.2149T>G	ENSP00000420412.2:p.Phe717Val
ENST00000489037.2:c.5383T>G	ENSP00000420781.2:p.Phe1795Val
ENST00000493919.6:c.2011T>G	ENSP00000418819.2:p.Phe671Val
ENST00000494123.6:c.5461T>G	ENSP00000419103.2:p.Phe1821Val
ENST00000497488.2:c.4573T>G	ENSP00000418986.2:p.Phe1525Val
ENST00000618469.2:c.5461T>G	ENSP00000478114.2:p.Phe1821Val
ENST00000634433.2:c.5338T>G	ENSP00000489431.2:p.Phe1780Val
ENST00000644379.2:c.5527T>G	ENSP00000496570.2:p.Phe1843Val
ENST00000644555.2:c.2011T>G	ENSP00000494614.2:p.Phe671Val
ENST00000652672.2:c.5320T>G	ENSP00000498906.2:p.Phe1774Val
ENST00000484087.6:c.2023T>G	ENSP00000419481.2:p.Phe675Val
ENST00000700081.1:n.1344T>G
ENST00000700082.1:n.825T>G
ENST00000357654.9:c.5461T>G MANE Select	ENSP00000350283.3:p.Phe1821Val
ENST00000471181.7:c.5524T>G	ENSP00000418960.2:p.Phe1842Val
ENST00000644379.1:c.1848T>G
ENST00000352993.7:c.2035T>G	ENSP00000312236.5:p.Phe679Val
ENST00000357654.7:c.5461T>G	ENSP00000350283.3:p.Phe1821Val
ENST00000461221.5:c.*5244T>G	ENSP00000418548.1:n.*5244T>G
ENST00000468300.5:c.2075T>G	ENSP00000417148.1:p.Leu692Arg
ENST00000471181.6:c.5524T>G	ENSP00000418960.2:p.Phe1842Val
ENST00000491747.6:c.2149T>G	ENSP00000420705.2:p.Phe717Val
ENST00000493795.5:c.5320T>G	ENSP00000418775.1:p.Phe1774Val
ENST00000586385.5:c.391T>G	ENSP00000465818.1:p.Phe131Val
ENST00000591534.5:c.934T>G	ENSP00000467329.1:p.Phe312Val
ENST00000591849.5:c.160T>G	ENSP00000465347.1:p.Phe54Val
NM_007294.3:c.5461T>G , LRG_292t1:c.5461T>G	NP_009225.1:p.Phe1821Val
NM_007297.3:c.5320T>G	NP_009228.2:p.Phe1774Val
NM_007298.3:c.2149T>G	NP_009229.2:p.Phe717Val
NM_007299.3:c.2075T>G	NP_009230.2:p.Leu692Arg
NM_007300.3:c.5524T>G	NP_009231.2:p.Phe1842Val
NR_027676.1:n.5597T>G
NM_007294.4:c.5461T>G MANE Select	NP_009225.1:p.Phe1821Val
NM_007297.4:c.5320T>G	NP_009228.2:p.Phe1774Val
NM_007299.4:c.2075T>G	NP_009230.2:p.Leu692Arg
NM_007300.4:c.5524T>G	NP_009231.2:p.Phe1842Val
NR_027676.2:n.5638T>G