Canonical Allele Identifier: CA003579
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55569
dbSNP Id: rs397509281

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047696T>G , CM000679.2:g.43047696T>G GRCh38
NC_000017.10:g.41199713T>G , CM000679.1:g.41199713T>G GRCh37
NC_000017.9:g.38453239T>G NCBI36
NG_005905.2:g.170288A>C , LRG_292:g.170288A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5411A>C ENSP00000417241.2:p.His1804Pro
ENST00000470026.6:c.5414A>C ENSP00000419274.2:p.His1805Pro
ENST00000473961.6:c.5288A>C ENSP00000420201.2:p.His1763Pro
ENST00000476777.6:c.5408A>C ENSP00000417554.2:p.His1803Pro
ENST00000477152.6:c.5336A>C ENSP00000419988.2:p.His1779Pro
ENST00000478531.6:c.2102A>C ENSP00000420412.2:p.His701Pro
ENST00000489037.2:c.5336A>C ENSP00000420781.2:p.His1779Pro
ENST00000493919.6:c.1964A>C ENSP00000418819.2:p.His655Pro
ENST00000494123.6:c.5414A>C ENSP00000419103.2:p.His1805Pro
ENST00000497488.2:c.4526A>C ENSP00000418986.2:p.His1509Pro
ENST00000618469.2:c.5414A>C ENSP00000478114.2:p.His1805Pro
ENST00000634433.2:c.5291A>C ENSP00000489431.2:p.His1764Pro
ENST00000644379.2:c.5480A>C ENSP00000496570.2:p.His1827Pro
ENST00000644555.2:c.1964A>C ENSP00000494614.2:p.His655Pro
ENST00000652672.2:c.5273A>C ENSP00000498906.2:p.His1758Pro
ENST00000484087.6:c.1976A>C ENSP00000419481.2:p.His659Pro
ENST00000700081.1:n.1297A>C
ENST00000700082.1:n.778A>C
ENST00000357654.9:c.5414A>C MANE Select ENSP00000350283.3:p.His1805Pro
ENST00000471181.7:c.5477A>C ENSP00000418960.2:p.His1826Pro
ENST00000644379.1:c.1801A>C
ENST00000352993.7:c.1988A>C ENSP00000312236.5:p.His663Pro
ENST00000357654.7:c.5414A>C ENSP00000350283.3:p.His1805Pro
ENST00000461221.5:c.*5197A>C ENSP00000418548.1:n.*5197A>C
ENST00000468300.5:c.2028A>C ENSP00000417148.1:p.Pro676=
ENST00000471181.6:c.5477A>C ENSP00000418960.2:p.His1826Pro
ENST00000491747.6:c.2102A>C ENSP00000420705.2:p.His701Pro
ENST00000493795.5:c.5273A>C ENSP00000418775.1:p.His1758Pro
ENST00000586385.5:c.344A>C ENSP00000465818.1:p.His115Pro
ENST00000591534.5:c.887A>C ENSP00000467329.1:p.His296Pro
ENST00000591849.5:c.113A>C ENSP00000465347.1:p.His38Pro
NM_007294.3:c.5414A>C , LRG_292t1:c.5414A>C NP_009225.1:p.His1805Pro
NM_007297.3:c.5273A>C NP_009228.2:p.His1758Pro
NM_007298.3:c.2102A>C NP_009229.2:p.His701Pro
NM_007299.3:c.2028A>C NP_009230.2:p.Pro676=
NM_007300.3:c.5477A>C NP_009231.2:p.His1826Pro
NR_027676.1:n.5550A>C
NM_007294.4:c.5414A>C MANE Select NP_009225.1:p.His1805Pro
NM_007297.4:c.5273A>C NP_009228.2:p.His1758Pro
NM_007299.4:c.2028A>C NP_009230.2:p.Pro676=
NM_007300.4:c.5477A>C NP_009231.2:p.His1826Pro
NR_027676.2:n.5591A>C