Canonical Allele Identifier: CA10590585

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867384
• ClinVar RCV Id: RCV001076061
• dbSNP Id: rs2050989260
• MyVariant Identifiers: chr17:g.41199700A>C (hg19) ; chr17:g.43047683A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047683A>C , CM000679.2:g.43047683A>C	GRCh38
NC_000017.10:g.41199700A>C , CM000679.1:g.41199700A>C	GRCh37
NC_000017.9:g.38453226A>C	NCBI36
NG_005905.2:g.170301T>G , LRG_292:g.170301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5424T>G	ENSP00000417241.2:p.Val1808=
ENST00000470026.6:c.5427T>G	ENSP00000419274.2:p.Val1809=
ENST00000473961.6:c.5301T>G	ENSP00000420201.2:p.Val1767=
ENST00000476777.6:c.5421T>G	ENSP00000417554.2:p.Val1807=
ENST00000477152.6:c.5349T>G	ENSP00000419988.2:p.Val1783=
ENST00000478531.6:c.2115T>G	ENSP00000420412.2:p.Val705=
ENST00000489037.2:c.5349T>G	ENSP00000420781.2:p.Val1783=
ENST00000493919.6:c.1977T>G	ENSP00000418819.2:p.Val659=
ENST00000494123.6:c.5427T>G	ENSP00000419103.2:p.Val1809=
ENST00000497488.2:c.4539T>G	ENSP00000418986.2:p.Val1513=
ENST00000618469.2:c.5427T>G	ENSP00000478114.2:p.Val1809=
ENST00000634433.2:c.5304T>G	ENSP00000489431.2:p.Val1768=
ENST00000644379.2:c.5493T>G	ENSP00000496570.2:p.Val1831=
ENST00000644555.2:c.1977T>G	ENSP00000494614.2:p.Val659=
ENST00000652672.2:c.5286T>G	ENSP00000498906.2:p.Val1762=
ENST00000484087.6:c.1989T>G	ENSP00000419481.2:p.Val663=
ENST00000700081.1:n.1310T>G
ENST00000700082.1:n.791T>G
ENST00000357654.9:c.5427T>G MANE Select	ENSP00000350283.3:p.Val1809=
ENST00000471181.7:c.5490T>G	ENSP00000418960.2:p.Val1830=
ENST00000644379.1:c.1814T>G
ENST00000352993.7:c.2001T>G	ENSP00000312236.5:p.Val667=
ENST00000357654.7:c.5427T>G	ENSP00000350283.3:p.Val1809=
ENST00000461221.5:c.*5210T>G	ENSP00000418548.1:n.*5210T>G
ENST00000468300.5:c.2041T>G	ENSP00000417148.1:p.Cys681Gly
ENST00000471181.6:c.5490T>G	ENSP00000418960.2:p.Val1830=
ENST00000491747.6:c.2115T>G	ENSP00000420705.2:p.Val705=
ENST00000493795.5:c.5286T>G	ENSP00000418775.1:p.Val1762=
ENST00000586385.5:c.357T>G	ENSP00000465818.1:p.Val119=
ENST00000591534.5:c.900T>G	ENSP00000467329.1:p.Val300=
ENST00000591849.5:c.126T>G	ENSP00000465347.1:p.Val42=
NM_007294.3:c.5427T>G , LRG_292t1:c.5427T>G	NP_009225.1:p.Val1809=
NM_007297.3:c.5286T>G	NP_009228.2:p.Val1762=
NM_007298.3:c.2115T>G	NP_009229.2:p.Val705=
NM_007299.3:c.2041T>G	NP_009230.2:p.Cys681Gly
NM_007300.3:c.5490T>G	NP_009231.2:p.Val1830=
NR_027676.1:n.5563T>G
NM_007294.4:c.5427T>G MANE Select	NP_009225.1:p.Val1809=
NM_007297.4:c.5286T>G	NP_009228.2:p.Val1762=
NM_007299.4:c.2041T>G	NP_009230.2:p.Cys681Gly
NM_007300.4:c.5490T>G	NP_009231.2:p.Val1830=
NR_027676.2:n.5604T>G