Canonical Allele Identifier: CA10590155

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41197702T>G (hg19) ; chr17:g.43045685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045685T>G , CM000679.2:g.43045685T>G	GRCh38
NC_000017.10:g.41197702T>G , CM000679.1:g.41197702T>G	GRCh37
NC_000017.9:g.38451228T>G	NCBI36
NG_005905.2:g.172299A>C , LRG_292:g.172299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5582A>C	ENSP00000417241.2:p.His1861Pro
ENST00000470026.6:c.5585A>C	ENSP00000419274.2:p.His1862Pro
ENST00000473961.6:c.5459A>C	ENSP00000420201.2:p.His1820Pro
ENST00000476777.6:c.5579A>C	ENSP00000417554.2:p.His1860Pro
ENST00000477152.6:c.5507A>C	ENSP00000419988.2:p.His1836Pro
ENST00000478531.6:c.2273A>C	ENSP00000420412.2:p.His758Pro
ENST00000489037.2:c.5507A>C	ENSP00000420781.2:p.His1836Pro
ENST00000493919.6:c.2135A>C	ENSP00000418819.2:p.His712Pro
ENST00000494123.6:c.5585A>C	ENSP00000419103.2:p.His1862Pro
ENST00000497488.2:c.4697A>C	ENSP00000418986.2:p.His1566Pro
ENST00000618469.2:c.5585A>C	ENSP00000478114.2:p.His1862Pro
ENST00000634433.2:c.5462A>C	ENSP00000489431.2:p.His1821Pro
ENST00000644379.2:c.5651A>C	ENSP00000496570.2:p.His1884Pro
ENST00000644555.2:c.2135A>C	ENSP00000494614.2:p.His712Pro
ENST00000652672.2:c.5444A>C	ENSP00000498906.2:p.His1815Pro
ENST00000484087.6:c.2147A>C	ENSP00000419481.2:p.His716Pro
ENST00000700081.1:n.1468A>C
ENST00000700082.1:n.949A>C
ENST00000357654.9:c.5585A>C MANE Select	ENSP00000350283.3:p.His1862Pro
ENST00000471181.7:c.5648A>C	ENSP00000418960.2:p.His1883Pro
ENST00000644379.1:c.1972A>C
ENST00000352993.7:c.2159A>C	ENSP00000312236.5:p.His720Pro
ENST00000357654.7:c.5585A>C	ENSP00000350283.3:p.His1862Pro
ENST00000461221.5:c.*5368A>C	ENSP00000418548.1:n.*5368A>C
ENST00000468300.5:c.*99A>C	ENSP00000417148.1:n.*99A>C
ENST00000471181.6:c.5648A>C	ENSP00000418960.2:p.His1883Pro
ENST00000491747.6:c.2273A>C	ENSP00000420705.2:p.His758Pro
ENST00000493795.5:c.5444A>C	ENSP00000418775.1:p.His1815Pro
ENST00000586385.5:c.515A>C	ENSP00000465818.1:p.His172Pro
ENST00000591534.5:c.1058A>C	ENSP00000467329.1:p.His353Pro
ENST00000591849.5:c.284A>C	ENSP00000465347.1:p.His95Pro
NM_007294.3:c.5585A>C , LRG_292t1:c.5585A>C	NP_009225.1:p.His1862Pro
NM_007297.3:c.5444A>C	NP_009228.2:p.His1815Pro
NM_007298.3:c.2273A>C	NP_009229.2:p.His758Pro
NM_007299.3:c.*99A>C	NP_009230.2:n.*99A>C
NM_007300.3:c.5648A>C	NP_009231.2:p.His1883Pro
NR_027676.1:n.5721A>C
NM_007294.4:c.5585A>C MANE Select	NP_009225.1:p.His1862Pro
NM_007297.4:c.5444A>C	NP_009228.2:p.His1815Pro
NM_007299.4:c.*99A>C	NP_009230.2:n.*99A>C
NM_007300.4:c.5648A>C	NP_009231.2:p.His1883Pro
NR_027676.2:n.5762A>C