Canonical Allele Identifier: CA10590974

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051110C>G , CM000679.2:g.43051110C>G	GRCh38
NC_000017.10:g.41203127C>G , CM000679.1:g.41203127C>G	GRCh37
NC_000017.9:g.38456653C>G	NCBI36
NG_005905.2:g.166874G>C , LRG_292:g.166874G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5285G>C MANE Select	NP_009225.1:p.Arg1762Thr
ENST00000357654.9:c.5285G>C MANE Select	ENSP00000350283.3:p.Arg1762Thr
NM_007294.3:c.5285G>C , LRG_292t1:c.5285G>C	NP_009225.1:p.Arg1762Thr
NM_007297.3:c.5144G>C	NP_009228.2:p.Arg1715Thr
NM_007297.4:c.5144G>C	NP_009228.2:p.Arg1715Thr
NM_007298.3:c.1973G>C	NP_009229.2:p.Arg658Thr
NM_007299.3:c.1973G>C	NP_009230.2:p.Arg658Thr
NM_007299.4:c.1973G>C	NP_009230.2:p.Arg658Thr
NM_007300.3:c.5348G>C	NP_009231.2:p.Arg1783Thr
NM_007300.4:c.5348G>C	NP_009231.2:p.Arg1783Thr
NR_027676.1:n.5421G>C
NR_027676.2:n.5462G>C
ENST00000352993.7:c.1859G>C	ENSP00000312236.5:p.Arg620Thr
ENST00000357654.7:c.5285G>C	ENSP00000350283.3:p.Arg1762Thr
ENST00000461221.5:c.*5068G>C	ENSP00000418548.1:n.*5068G>C
ENST00000461574.2:c.5282G>C	ENSP00000417241.2:p.Arg1761Thr
ENST00000468300.5:c.1973G>C	ENSP00000417148.1:p.Arg658Thr
ENST00000470026.6:c.5285G>C	ENSP00000419274.2:p.Arg1762Thr
ENST00000471181.6:c.5348G>C	ENSP00000418960.2:p.Arg1783Thr
ENST00000471181.7:c.5348G>C	ENSP00000418960.2:p.Arg1783Thr
ENST00000473961.6:c.5159G>C	ENSP00000420201.2:p.Arg1720Thr
ENST00000476777.6:c.5279G>C	ENSP00000417554.2:p.Arg1760Thr
ENST00000477152.6:c.5207G>C	ENSP00000419988.2:p.Arg1736Thr
ENST00000478531.6:c.1973G>C	ENSP00000420412.2:p.Arg658Thr
ENST00000484087.6:c.1847G>C	ENSP00000419481.2:p.Arg616Thr
ENST00000489037.2:c.5207G>C	ENSP00000420781.2:p.Arg1736Thr
ENST00000491747.6:c.1973G>C	ENSP00000420705.2:p.Arg658Thr
ENST00000493795.5:c.5144G>C	ENSP00000418775.1:p.Arg1715Thr
ENST00000493919.6:c.1835G>C	ENSP00000418819.2:p.Arg612Thr
ENST00000494123.6:c.5285G>C	ENSP00000419103.2:p.Arg1762Thr
ENST00000497488.2:c.4397G>C	ENSP00000418986.2:p.Arg1466Thr
ENST00000586385.5:c.215G>C	ENSP00000465818.1:p.Arg72Thr
ENST00000591534.5:c.758G>C	ENSP00000467329.1:p.Arg253Thr
ENST00000591849.5:c.-98-920G>C	ENSP00000465347.1:n.-98-920G>C
ENST00000618469.2:c.5285G>C	ENSP00000478114.2:p.Arg1762Thr
ENST00000634433.2:c.5162G>C	ENSP00000489431.2:p.Arg1721Thr
ENST00000644379.1:c.1672G>C
ENST00000644379.2:c.5351G>C	ENSP00000496570.2:p.Arg1784Thr
ENST00000644555.2:c.1835G>C	ENSP00000494614.2:p.Arg612Thr
ENST00000652672.2:c.5144G>C	ENSP00000498906.2:p.Arg1715Thr