Canonical Allele Identifier: CA10592747

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228595A>C (hg19) ; chr17:g.43076578A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076578A>C , CM000679.2:g.43076578A>C	GRCh38
NC_000017.10:g.41228595A>C , CM000679.1:g.41228595A>C	GRCh37
NC_000017.9:g.38482121A>C	NCBI36
NG_005905.2:g.141406T>G , LRG_292:g.141406T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4391T>G	ENSP00000417241.2:p.Ile1464Arg
ENST00000470026.6:c.4394T>G	ENSP00000419274.2:p.Ile1465Arg
ENST00000473961.6:c.4268T>G	ENSP00000420201.2:p.Ile1423Arg
ENST00000476777.6:c.4388T>G	ENSP00000417554.2:p.Ile1463Arg
ENST00000477152.6:c.4316T>G	ENSP00000419988.2:p.Ile1439Arg
ENST00000478531.6:c.1082T>G	ENSP00000420412.2:p.Ile361Arg
ENST00000489037.2:c.4316T>G	ENSP00000420781.2:p.Ile1439Arg
ENST00000493919.6:c.944T>G	ENSP00000418819.2:p.Ile315Arg
ENST00000494123.6:c.4394T>G	ENSP00000419103.2:p.Ile1465Arg
ENST00000497488.2:c.3506T>G	ENSP00000418986.2:p.Ile1169Arg
ENST00000618469.2:c.4394T>G	ENSP00000478114.2:p.Ile1465Arg
ENST00000634433.2:c.4271T>G	ENSP00000489431.2:p.Ile1424Arg
ENST00000644379.2:c.4460T>G	ENSP00000496570.2:p.Ile1487Arg
ENST00000644555.2:c.944T>G	ENSP00000494614.2:p.Ile315Arg
ENST00000652672.2:c.4253T>G	ENSP00000498906.2:p.Ile1418Arg
ENST00000484087.6:c.956T>G	ENSP00000419481.2:p.Ile319Arg
ENST00000700182.1:c.1001T>G	ENSP00000514849.1:p.Ile334Arg
ENST00000357654.9:c.4394T>G MANE Select	ENSP00000350283.3:p.Ile1465Arg
ENST00000471181.7:c.4457T>G	ENSP00000418960.2:p.Ile1486Arg
ENST00000644379.1:c.781T>G
ENST00000352993.7:c.968T>G	ENSP00000312236.5:p.Ile323Arg
ENST00000357654.7:c.4394T>G	ENSP00000350283.3:p.Ile1465Arg
ENST00000461221.5:c.*4177T>G	ENSP00000418548.1:n.*4177T>G
ENST00000461574.1:c.685T>G
ENST00000468300.5:c.1082T>G	ENSP00000417148.1:p.Ile361Arg
ENST00000471181.6:c.4457T>G	ENSP00000418960.2:p.Ile1486Arg
ENST00000478531.5:c.1082T>G	ENSP00000420412.1:p.Ile361Arg
ENST00000484087.5:c.707T>G	ENSP00000419481.1:p.Ile236Arg
ENST00000487825.5:c.710T>G	ENSP00000418212.1:p.Ile237Arg
ENST00000491747.6:c.1082T>G	ENSP00000420705.2:p.Ile361Arg
ENST00000493795.5:c.4253T>G	ENSP00000418775.1:p.Ile1418Arg
ENST00000493919.5:c.944T>G	ENSP00000418819.1:p.Ile315Arg
ENST00000586385.5:c.5-12627T>G	ENSP00000465818.1:n.5-12627T>G
ENST00000591534.5:c.-43-2057T>G	ENSP00000467329.1:n.-43-2057T>G
ENST00000591849.5:c.-98-26388T>G	ENSP00000465347.1:n.-98-26388T>G
ENST00000621897.1:n.285T>G
NM_007294.3:c.4394T>G , LRG_292t1:c.4394T>G	NP_009225.1:p.Ile1465Arg
NM_007297.3:c.4253T>G	NP_009228.2:p.Ile1418Arg
NM_007298.3:c.1082T>G	NP_009229.2:p.Ile361Arg
NM_007299.3:c.1082T>G	NP_009230.2:p.Ile361Arg
NM_007300.3:c.4457T>G	NP_009231.2:p.Ile1486Arg
NR_027676.1:n.4530T>G
NM_007294.4:c.4394T>G MANE Select	NP_009225.1:p.Ile1465Arg
NM_007297.4:c.4253T>G	NP_009228.2:p.Ile1418Arg
NM_007299.4:c.1082T>G	NP_009230.2:p.Ile361Arg
NM_007300.4:c.4457T>G	NP_009231.2:p.Ile1486Arg
NR_027676.2:n.4571T>G