Canonical Allele Identifier: CA10590180

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 851795
• ClinVar RCV Id: RCV001056267
• dbSNP Id: rs755427809
• MyVariant Identifiers: chr17:g.41197714A>T (hg19) ; chr17:g.43045697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045697A>T , CM000679.2:g.43045697A>T	GRCh38
NC_000017.10:g.41197714A>T , CM000679.1:g.41197714A>T	GRCh37
NC_000017.9:g.38451240A>T	NCBI36
NG_005905.2:g.172287T>A , LRG_292:g.172287T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5570T>A	ENSP00000417241.2:p.Ile1857Asn
ENST00000470026.6:c.5573T>A	ENSP00000419274.2:p.Ile1858Asn
ENST00000473961.6:c.5447T>A	ENSP00000420201.2:p.Ile1816Asn
ENST00000476777.6:c.5567T>A	ENSP00000417554.2:p.Ile1856Asn
ENST00000477152.6:c.5495T>A	ENSP00000419988.2:p.Ile1832Asn
ENST00000478531.6:c.2261T>A	ENSP00000420412.2:p.Ile754Asn
ENST00000489037.2:c.5495T>A	ENSP00000420781.2:p.Ile1832Asn
ENST00000493919.6:c.2123T>A	ENSP00000418819.2:p.Ile708Asn
ENST00000494123.6:c.5573T>A	ENSP00000419103.2:p.Ile1858Asn
ENST00000497488.2:c.4685T>A	ENSP00000418986.2:p.Ile1562Asn
ENST00000618469.2:c.5573T>A	ENSP00000478114.2:p.Ile1858Asn
ENST00000634433.2:c.5450T>A	ENSP00000489431.2:p.Ile1817Asn
ENST00000644379.2:c.5639T>A	ENSP00000496570.2:p.Ile1880Asn
ENST00000644555.2:c.2123T>A	ENSP00000494614.2:p.Ile708Asn
ENST00000652672.2:c.5432T>A	ENSP00000498906.2:p.Ile1811Asn
ENST00000484087.6:c.2135T>A	ENSP00000419481.2:p.Ile712Asn
ENST00000700081.1:n.1456T>A
ENST00000700082.1:n.937T>A
ENST00000357654.9:c.5573T>A MANE Select	ENSP00000350283.3:p.Ile1858Asn
ENST00000471181.7:c.5636T>A	ENSP00000418960.2:p.Ile1879Asn
ENST00000644379.1:c.1960T>A
ENST00000352993.7:c.2147T>A	ENSP00000312236.5:p.Ile716Asn
ENST00000357654.7:c.5573T>A	ENSP00000350283.3:p.Ile1858Asn
ENST00000461221.5:c.*5356T>A	ENSP00000418548.1:n.*5356T>A
ENST00000468300.5:c.*87T>A	ENSP00000417148.1:n.*87T>A
ENST00000471181.6:c.5636T>A	ENSP00000418960.2:p.Ile1879Asn
ENST00000491747.6:c.2261T>A	ENSP00000420705.2:p.Ile754Asn
ENST00000493795.5:c.5432T>A	ENSP00000418775.1:p.Ile1811Asn
ENST00000586385.5:c.503T>A	ENSP00000465818.1:p.Ile168Asn
ENST00000591534.5:c.1046T>A	ENSP00000467329.1:p.Ile349Asn
ENST00000591849.5:c.272T>A	ENSP00000465347.1:p.Ile91Asn
NM_007294.3:c.5573T>A , LRG_292t1:c.5573T>A	NP_009225.1:p.Ile1858Asn
NM_007297.3:c.5432T>A	NP_009228.2:p.Ile1811Asn
NM_007298.3:c.2261T>A	NP_009229.2:p.Ile754Asn
NM_007299.3:c.*87T>A	NP_009230.2:n.*87T>A
NM_007300.3:c.5636T>A	NP_009231.2:p.Ile1879Asn
NR_027676.1:n.5709T>A
NM_007294.4:c.5573T>A MANE Select	NP_009225.1:p.Ile1858Asn
NM_007297.4:c.5432T>A	NP_009228.2:p.Ile1811Asn
NM_007299.4:c.*87T>A	NP_009230.2:n.*87T>A
NM_007300.4:c.5636T>A	NP_009231.2:p.Ile1879Asn
NR_027676.2:n.5750T>A