Canonical Allele Identifier: CA10590166

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045690G>C , CM000679.2:g.43045690G>C	GRCh38
NC_000017.10:g.41197707G>C , CM000679.1:g.41197707G>C	GRCh37
NC_000017.9:g.38451233G>C	NCBI36
NG_005905.2:g.172294C>G , LRG_292:g.172294C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5580C>G MANE Select	NP_009225.1:p.His1860Gln
ENST00000357654.9:c.5580C>G MANE Select	ENSP00000350283.3:p.His1860Gln
NM_007294.3:c.5580C>G , LRG_292t1:c.5580C>G	NP_009225.1:p.His1860Gln
NM_007297.3:c.5439C>G	NP_009228.2:p.His1813Gln
NM_007297.4:c.5439C>G	NP_009228.2:p.His1813Gln
NM_007298.3:c.2268C>G	NP_009229.2:p.His756Gln
NM_007299.3:c.*94C>G	NP_009230.2:n.*94C>G
NM_007299.4:c.*94C>G	NP_009230.2:n.*94C>G
NM_007300.3:c.5643C>G	NP_009231.2:p.His1881Gln
NM_007300.4:c.5643C>G	NP_009231.2:p.His1881Gln
NR_027676.1:n.5716C>G
NR_027676.2:n.5757C>G
ENST00000352993.7:c.2154C>G	ENSP00000312236.5:p.His718Gln
ENST00000357654.7:c.5580C>G	ENSP00000350283.3:p.His1860Gln
ENST00000461221.5:c.*5363C>G	ENSP00000418548.1:n.*5363C>G
ENST00000461574.2:c.5577C>G	ENSP00000417241.2:p.His1859Gln
ENST00000468300.5:c.*94C>G	ENSP00000417148.1:n.*94C>G
ENST00000470026.6:c.5580C>G	ENSP00000419274.2:p.His1860Gln
ENST00000471181.6:c.5643C>G	ENSP00000418960.2:p.His1881Gln
ENST00000471181.7:c.5643C>G	ENSP00000418960.2:p.His1881Gln
ENST00000473961.6:c.5454C>G	ENSP00000420201.2:p.His1818Gln
ENST00000476777.6:c.5574C>G	ENSP00000417554.2:p.His1858Gln
ENST00000477152.6:c.5502C>G	ENSP00000419988.2:p.His1834Gln
ENST00000478531.6:c.2268C>G	ENSP00000420412.2:p.His756Gln
ENST00000484087.6:c.2142C>G	ENSP00000419481.2:p.His714Gln
ENST00000489037.2:c.5502C>G	ENSP00000420781.2:p.His1834Gln
ENST00000491747.6:c.2268C>G	ENSP00000420705.2:p.His756Gln
ENST00000493795.5:c.5439C>G	ENSP00000418775.1:p.His1813Gln
ENST00000493919.6:c.2130C>G	ENSP00000418819.2:p.His710Gln
ENST00000494123.6:c.5580C>G	ENSP00000419103.2:p.His1860Gln
ENST00000497488.2:c.4692C>G	ENSP00000418986.2:p.His1564Gln
ENST00000586385.5:c.510C>G	ENSP00000465818.1:p.His170Gln
ENST00000591534.5:c.1053C>G	ENSP00000467329.1:p.His351Gln
ENST00000591849.5:c.279C>G	ENSP00000465347.1:p.His93Gln
ENST00000618469.2:c.5580C>G	ENSP00000478114.2:p.His1860Gln
ENST00000634433.2:c.5457C>G	ENSP00000489431.2:p.His1819Gln
ENST00000644379.1:c.1967C>G
ENST00000644379.2:c.5646C>G	ENSP00000496570.2:p.His1882Gln
ENST00000644555.2:c.2130C>G	ENSP00000494614.2:p.His710Gln
ENST00000652672.2:c.5439C>G	ENSP00000498906.2:p.His1813Gln
ENST00000700081.1:n.1463C>G
ENST00000700082.1:n.944C>G