Canonical Allele Identifier: CA10590479

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047656G>T , CM000679.2:g.43047656G>T	GRCh38
NC_000017.10:g.41199673G>T , CM000679.1:g.41199673G>T	GRCh37
NC_000017.9:g.38453199G>T	NCBI36
NG_005905.2:g.170328C>A , LRG_292:g.170328C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5454C>A MANE Select	NP_009225.1:p.Asp1818Glu
ENST00000357654.9:c.5454C>A MANE Select	ENSP00000350283.3:p.Asp1818Glu
NM_007294.3:c.5454C>A , LRG_292t1:c.5454C>A	NP_009225.1:p.Asp1818Glu
NM_007297.3:c.5313C>A	NP_009228.2:p.Asp1771Glu
NM_007297.4:c.5313C>A	NP_009228.2:p.Asp1771Glu
NM_007298.3:c.2142C>A	NP_009229.2:p.Asp714Glu
NM_007299.3:c.2068C>A	NP_009230.2:p.Gln690Lys
NM_007299.4:c.2068C>A	NP_009230.2:p.Gln690Lys
NM_007300.3:c.5517C>A	NP_009231.2:p.Asp1839Glu
NM_007300.4:c.5517C>A	NP_009231.2:p.Asp1839Glu
NR_027676.1:n.5590C>A
NR_027676.2:n.5631C>A
ENST00000352993.7:c.2028C>A	ENSP00000312236.5:p.Asp676Glu
ENST00000357654.7:c.5454C>A	ENSP00000350283.3:p.Asp1818Glu
ENST00000461221.5:c.*5237C>A	ENSP00000418548.1:n.*5237C>A
ENST00000461574.2:c.5451C>A	ENSP00000417241.2:p.Asp1817Glu
ENST00000468300.5:c.2068C>A	ENSP00000417148.1:p.Gln690Lys
ENST00000470026.6:c.5454C>A	ENSP00000419274.2:p.Asp1818Glu
ENST00000471181.6:c.5517C>A	ENSP00000418960.2:p.Asp1839Glu
ENST00000471181.7:c.5517C>A	ENSP00000418960.2:p.Asp1839Glu
ENST00000473961.6:c.5328C>A	ENSP00000420201.2:p.Asp1776Glu
ENST00000476777.6:c.5448C>A	ENSP00000417554.2:p.Asp1816Glu
ENST00000477152.6:c.5376C>A	ENSP00000419988.2:p.Asp1792Glu
ENST00000478531.6:c.2142C>A	ENSP00000420412.2:p.Asp714Glu
ENST00000484087.6:c.2016C>A	ENSP00000419481.2:p.Asp672Glu
ENST00000489037.2:c.5376C>A	ENSP00000420781.2:p.Asp1792Glu
ENST00000491747.6:c.2142C>A	ENSP00000420705.2:p.Asp714Glu
ENST00000493795.5:c.5313C>A	ENSP00000418775.1:p.Asp1771Glu
ENST00000493919.6:c.2004C>A	ENSP00000418819.2:p.Asp668Glu
ENST00000494123.6:c.5454C>A	ENSP00000419103.2:p.Asp1818Glu
ENST00000497488.2:c.4566C>A	ENSP00000418986.2:p.Asp1522Glu
ENST00000586385.5:c.384C>A	ENSP00000465818.1:p.Asp128Glu
ENST00000591534.5:c.927C>A	ENSP00000467329.1:p.Asp309Glu
ENST00000591849.5:c.153C>A	ENSP00000465347.1:p.Asp51Glu
ENST00000618469.2:c.5454C>A	ENSP00000478114.2:p.Asp1818Glu
ENST00000634433.2:c.5331C>A	ENSP00000489431.2:p.Asp1777Glu
ENST00000644379.1:c.1841C>A
ENST00000644379.2:c.5520C>A	ENSP00000496570.2:p.Asp1840Glu
ENST00000644555.2:c.2004C>A	ENSP00000494614.2:p.Asp668Glu
ENST00000652672.2:c.5313C>A	ENSP00000498906.2:p.Asp1771Glu
ENST00000700081.1:n.1337C>A
ENST00000700082.1:n.818C>A