Canonical Allele Identifier: CA052895

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071166C>T , CM000679.2:g.43071166C>T	GRCh38
NC_000017.10:g.41223183C>T , CM000679.1:g.41223183C>T	GRCh37
NC_000017.9:g.38476709C>T	NCBI36
NG_005905.2:g.146818G>A , LRG_292:g.146818G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4748G>A MANE Select	NP_009225.1:p.Arg1583Lys
ENST00000357654.9:c.4748G>A MANE Select	ENSP00000350283.3:p.Arg1583Lys
NM_007294.3:c.4748G>A , LRG_292t1:c.4748G>A	NP_009225.1:p.Arg1583Lys
NM_007297.3:c.4607G>A	NP_009228.2:p.Arg1536Lys
NM_007297.4:c.4607G>A	NP_009228.2:p.Arg1536Lys
NM_007298.3:c.1436G>A	NP_009229.2:p.Arg479Lys
NM_007299.3:c.1436G>A	NP_009230.2:p.Arg479Lys
NM_007299.4:c.1436G>A	NP_009230.2:p.Arg479Lys
NM_007300.3:c.4811G>A	NP_009231.2:p.Arg1604Lys
NM_007300.4:c.4811G>A	NP_009231.2:p.Arg1604Lys
NR_027676.1:n.4884G>A
NR_027676.2:n.4925G>A
ENST00000352993.7:c.1322G>A	ENSP00000312236.5:p.Arg441Lys
ENST00000357654.7:c.4748G>A	ENSP00000350283.3:p.Arg1583Lys
ENST00000461221.5:c.*4531G>A	ENSP00000418548.1:n.*4531G>A
ENST00000461574.2:c.4745G>A	ENSP00000417241.2:p.Arg1582Lys
ENST00000468300.5:c.1436G>A	ENSP00000417148.1:p.Arg479Lys
ENST00000470026.6:c.4748G>A	ENSP00000419274.2:p.Arg1583Lys
ENST00000471181.6:c.4811G>A	ENSP00000418960.2:p.Arg1604Lys
ENST00000471181.7:c.4811G>A	ENSP00000418960.2:p.Arg1604Lys
ENST00000473961.6:c.4622G>A	ENSP00000420201.2:p.Arg1541Lys
ENST00000476777.6:c.4742G>A	ENSP00000417554.2:p.Arg1581Lys
ENST00000477152.6:c.4670G>A	ENSP00000419988.2:p.Arg1557Lys
ENST00000478531.5:c.1436G>A	ENSP00000420412.1:p.Arg479Lys
ENST00000478531.6:c.1436G>A	ENSP00000420412.2:p.Arg479Lys
ENST00000484087.5:c.1061G>A	ENSP00000419481.1:p.Arg354Lys
ENST00000484087.6:c.1310G>A	ENSP00000419481.2:p.Arg437Lys
ENST00000489037.2:c.4670G>A	ENSP00000420781.2:p.Arg1557Lys
ENST00000491747.6:c.1436G>A	ENSP00000420705.2:p.Arg479Lys
ENST00000493795.5:c.4607G>A	ENSP00000418775.1:p.Arg1536Lys
ENST00000493919.5:c.1298G>A	ENSP00000418819.1:p.Arg433Lys
ENST00000493919.6:c.1298G>A	ENSP00000418819.2:p.Arg433Lys
ENST00000494123.6:c.4748G>A	ENSP00000419103.2:p.Arg1583Lys
ENST00000497488.2:c.3860G>A	ENSP00000418986.2:p.Arg1287Lys
ENST00000586385.5:c.5-7215G>A	ENSP00000465818.1:n.5-7215G>A
ENST00000591534.5:c.221G>A	ENSP00000467329.1:p.Arg74Lys
ENST00000591849.5:c.-98-20976G>A	ENSP00000465347.1:n.-98-20976G>A
ENST00000618469.2:c.4748G>A	ENSP00000478114.2:p.Arg1583Lys
ENST00000634433.2:c.4625G>A	ENSP00000489431.2:p.Arg1542Lys
ENST00000644379.1:c.1135G>A
ENST00000644379.2:c.4814G>A	ENSP00000496570.2:p.Arg1605Lys
ENST00000644555.2:c.1298G>A	ENSP00000494614.2:p.Arg433Lys
ENST00000652672.2:c.4607G>A	ENSP00000498906.2:p.Arg1536Lys
ENST00000700182.1:c.1355G>A	ENSP00000514849.1:p.Arg452Lys