Canonical Allele Identifier: CA10591318

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063921T>A , CM000679.2:g.43063921T>A	GRCh38
NC_000017.10:g.41215938T>A , CM000679.1:g.41215938T>A	GRCh37
NC_000017.9:g.38469464T>A	NCBI36
NG_005905.2:g.154063A>T , LRG_292:g.154063A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5105A>T MANE Select	NP_009225.1:p.Lys1702Ile
ENST00000357654.9:c.5105A>T MANE Select	ENSP00000350283.3:p.Lys1702Ile
NM_007294.3:c.5105A>T , LRG_292t1:c.5105A>T	NP_009225.1:p.Lys1702Ile
NM_007297.3:c.4964A>T	NP_009228.2:p.Lys1655Ile
NM_007297.4:c.4964A>T	NP_009228.2:p.Lys1655Ile
NM_007298.3:c.1793A>T	NP_009229.2:p.Lys598Ile
NM_007299.3:c.1793A>T	NP_009230.2:p.Lys598Ile
NM_007299.4:c.1793A>T	NP_009230.2:p.Lys598Ile
NM_007300.3:c.5168A>T	NP_009231.2:p.Lys1723Ile
NM_007300.4:c.5168A>T	NP_009231.2:p.Lys1723Ile
NR_027676.1:n.5241A>T
NR_027676.2:n.5282A>T
ENST00000352993.7:c.1679A>T	ENSP00000312236.5:p.Lys560Ile
ENST00000357654.7:c.5105A>T	ENSP00000350283.3:p.Lys1702Ile
ENST00000461221.5:c.*4888A>T	ENSP00000418548.1:n.*4888A>T
ENST00000461574.2:c.5102A>T	ENSP00000417241.2:p.Lys1701Ile
ENST00000468300.5:c.1793A>T	ENSP00000417148.1:p.Lys598Ile
ENST00000470026.6:c.5105A>T	ENSP00000419274.2:p.Lys1702Ile
ENST00000471181.6:c.5168A>T	ENSP00000418960.2:p.Lys1723Ile
ENST00000471181.7:c.5168A>T	ENSP00000418960.2:p.Lys1723Ile
ENST00000473961.6:c.4979A>T	ENSP00000420201.2:p.Lys1660Ile
ENST00000476777.6:c.5099A>T	ENSP00000417554.2:p.Lys1700Ile
ENST00000477152.6:c.5027A>T	ENSP00000419988.2:p.Lys1676Ile
ENST00000478531.5:c.1793A>T	ENSP00000420412.1:p.Lys598Ile
ENST00000478531.6:c.1793A>T	ENSP00000420412.2:p.Lys598Ile
ENST00000484087.5:c.1418A>T	ENSP00000419481.1:p.Lys473Ile
ENST00000484087.6:c.1667A>T	ENSP00000419481.2:p.Lys556Ile
ENST00000489037.2:c.5027A>T	ENSP00000420781.2:p.Lys1676Ile
ENST00000491747.6:c.1793A>T	ENSP00000420705.2:p.Lys598Ile
ENST00000493795.5:c.4964A>T	ENSP00000418775.1:p.Lys1655Ile
ENST00000493919.5:c.1655A>T	ENSP00000418819.1:p.Lys552Ile
ENST00000493919.6:c.1655A>T	ENSP00000418819.2:p.Lys552Ile
ENST00000494123.6:c.5105A>T	ENSP00000419103.2:p.Lys1702Ile
ENST00000497488.2:c.4217A>T	ENSP00000418986.2:p.Lys1406Ile
ENST00000586385.5:c.35A>T	ENSP00000465818.1:p.Lys12Ile
ENST00000591534.5:c.578A>T	ENSP00000467329.1:p.Lys193Ile
ENST00000591849.5:c.-98-13731A>T	ENSP00000465347.1:n.-98-13731A>T
ENST00000618469.2:c.5105A>T	ENSP00000478114.2:p.Lys1702Ile
ENST00000634433.2:c.4982A>T	ENSP00000489431.2:p.Lys1661Ile
ENST00000644379.1:c.1492A>T
ENST00000644379.2:c.5171A>T	ENSP00000496570.2:p.Lys1724Ile
ENST00000644555.2:c.1655A>T	ENSP00000494614.2:p.Lys552Ile
ENST00000652672.2:c.4964A>T	ENSP00000498906.2:p.Lys1655Ile