Canonical Allele Identifier: CA10590268

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045745A>T , CM000679.2:g.43045745A>T	GRCh38
NC_000017.10:g.41197762A>T , CM000679.1:g.41197762A>T	GRCh37
NC_000017.9:g.38451288A>T	NCBI36
NG_005905.2:g.172239T>A , LRG_292:g.172239T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5522T>A	ENSP00000417241.2:p.Val1841Glu
ENST00000470026.6:c.5525T>A	ENSP00000419274.2:p.Val1842Glu
ENST00000473961.6:c.5399T>A	ENSP00000420201.2:p.Val1800Glu
ENST00000476777.6:c.5519T>A	ENSP00000417554.2:p.Val1840Glu
ENST00000477152.6:c.5447T>A	ENSP00000419988.2:p.Val1816Glu
ENST00000478531.6:c.2213T>A	ENSP00000420412.2:p.Val738Glu
ENST00000489037.2:c.5447T>A	ENSP00000420781.2:p.Val1816Glu
ENST00000493919.6:c.2075T>A	ENSP00000418819.2:p.Val692Glu
ENST00000494123.6:c.5525T>A	ENSP00000419103.2:p.Val1842Glu
ENST00000497488.2:c.4637T>A	ENSP00000418986.2:p.Val1546Glu
ENST00000618469.2:c.5525T>A	ENSP00000478114.2:p.Val1842Glu
ENST00000634433.2:c.5402T>A	ENSP00000489431.2:p.Val1801Glu
ENST00000644379.2:c.5591T>A	ENSP00000496570.2:p.Val1864Glu
ENST00000644555.2:c.2075T>A	ENSP00000494614.2:p.Val692Glu
ENST00000652672.2:c.5384T>A	ENSP00000498906.2:p.Val1795Glu
ENST00000484087.6:c.2087T>A	ENSP00000419481.2:p.Val696Glu
ENST00000700081.1:n.1408T>A
ENST00000700082.1:n.889T>A
ENST00000357654.9:c.5525T>A MANE Select	ENSP00000350283.3:p.Val1842Glu
ENST00000471181.7:c.5588T>A	ENSP00000418960.2:p.Val1863Glu
ENST00000644379.1:c.1912T>A
ENST00000352993.7:c.2099T>A	ENSP00000312236.5:p.Val700Glu
ENST00000357654.7:c.5525T>A	ENSP00000350283.3:p.Val1842Glu
ENST00000461221.5:c.*5308T>A	ENSP00000418548.1:n.*5308T>A
ENST00000468300.5:c.*39T>A	ENSP00000417148.1:n.*39T>A
ENST00000471181.6:c.5588T>A	ENSP00000418960.2:p.Val1863Glu
ENST00000491747.6:c.2213T>A	ENSP00000420705.2:p.Val738Glu
ENST00000493795.5:c.5384T>A	ENSP00000418775.1:p.Val1795Glu
ENST00000586385.5:c.455T>A	ENSP00000465818.1:p.Val152Glu
ENST00000591534.5:c.998T>A	ENSP00000467329.1:p.Val333Glu
ENST00000591849.5:c.224T>A	ENSP00000465347.1:p.Val75Glu
NM_007294.3:c.5525T>A , LRG_292t1:c.5525T>A	NP_009225.1:p.Val1842Glu
NM_007297.3:c.5384T>A	NP_009228.2:p.Val1795Glu
NM_007298.3:c.2213T>A	NP_009229.2:p.Val738Glu
NM_007299.3:c.*39T>A	NP_009230.2:n.*39T>A
NM_007300.3:c.5588T>A	NP_009231.2:p.Val1863Glu
NR_027676.1:n.5661T>A
NM_007294.4:c.5525T>A MANE Select	NP_009225.1:p.Val1842Glu
NM_007297.4:c.5384T>A	NP_009228.2:p.Val1795Glu
NM_007299.4:c.*39T>A	NP_009230.2:n.*39T>A
NM_007300.4:c.5588T>A	NP_009231.2:p.Val1863Glu
NR_027676.2:n.5702T>A