Canonical Allele Identifier: CA10590240

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868638
• ClinVar RCV Id: RCV001077578
• dbSNP Id: rs886040303
• MyVariant Identifiers: chr17:g.41197745G>T (hg19) ; chr17:g.43045728G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045728G>T , CM000679.2:g.43045728G>T	GRCh38
NC_000017.10:g.41197745G>T , CM000679.1:g.41197745G>T	GRCh37
NC_000017.9:g.38451271G>T	NCBI36
NG_005905.2:g.172256C>A , LRG_292:g.172256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5539C>A	ENSP00000417241.2:p.Gln1847Lys
ENST00000470026.6:c.5542C>A	ENSP00000419274.2:p.Gln1848Lys
ENST00000473961.6:c.5416C>A	ENSP00000420201.2:p.Gln1806Lys
ENST00000476777.6:c.5536C>A	ENSP00000417554.2:p.Gln1846Lys
ENST00000477152.6:c.5464C>A	ENSP00000419988.2:p.Gln1822Lys
ENST00000478531.6:c.2230C>A	ENSP00000420412.2:p.Gln744Lys
ENST00000489037.2:c.5464C>A	ENSP00000420781.2:p.Gln1822Lys
ENST00000493919.6:c.2092C>A	ENSP00000418819.2:p.Gln698Lys
ENST00000494123.6:c.5542C>A	ENSP00000419103.2:p.Gln1848Lys
ENST00000497488.2:c.4654C>A	ENSP00000418986.2:p.Gln1552Lys
ENST00000618469.2:c.5542C>A	ENSP00000478114.2:p.Gln1848Lys
ENST00000634433.2:c.5419C>A	ENSP00000489431.2:p.Gln1807Lys
ENST00000644379.2:c.5608C>A	ENSP00000496570.2:p.Gln1870Lys
ENST00000644555.2:c.2092C>A	ENSP00000494614.2:p.Gln698Lys
ENST00000652672.2:c.5401C>A	ENSP00000498906.2:p.Gln1801Lys
ENST00000484087.6:c.2104C>A	ENSP00000419481.2:p.Gln702Lys
ENST00000700081.1:n.1425C>A
ENST00000700082.1:n.906C>A
ENST00000357654.9:c.5542C>A MANE Select	ENSP00000350283.3:p.Gln1848Lys
ENST00000471181.7:c.5605C>A	ENSP00000418960.2:p.Gln1869Lys
ENST00000644379.1:c.1929C>A
ENST00000352993.7:c.2116C>A	ENSP00000312236.5:p.Gln706Lys
ENST00000357654.7:c.5542C>A	ENSP00000350283.3:p.Gln1848Lys
ENST00000461221.5:c.*5325C>A	ENSP00000418548.1:n.*5325C>A
ENST00000468300.5:c.*56C>A	ENSP00000417148.1:n.*56C>A
ENST00000471181.6:c.5605C>A	ENSP00000418960.2:p.Gln1869Lys
ENST00000491747.6:c.2230C>A	ENSP00000420705.2:p.Gln744Lys
ENST00000493795.5:c.5401C>A	ENSP00000418775.1:p.Gln1801Lys
ENST00000586385.5:c.472C>A	ENSP00000465818.1:p.Gln158Lys
ENST00000591534.5:c.1015C>A	ENSP00000467329.1:p.Gln339Lys
ENST00000591849.5:c.241C>A	ENSP00000465347.1:p.Gln81Lys
NM_007294.3:c.5542C>A , LRG_292t1:c.5542C>A	NP_009225.1:p.Gln1848Lys
NM_007297.3:c.5401C>A	NP_009228.2:p.Gln1801Lys
NM_007298.3:c.2230C>A	NP_009229.2:p.Gln744Lys
NM_007299.3:c.*56C>A	NP_009230.2:n.*56C>A
NM_007300.3:c.5605C>A	NP_009231.2:p.Gln1869Lys
NR_027676.1:n.5678C>A
NM_007294.4:c.5542C>A MANE Select	NP_009225.1:p.Gln1848Lys
NM_007297.4:c.5401C>A	NP_009228.2:p.Gln1801Lys
NM_007299.4:c.*56C>A	NP_009230.2:n.*56C>A
NM_007300.4:c.5605C>A	NP_009231.2:p.Gln1869Lys
NR_027676.2:n.5719C>A