Canonical Allele Identifier: CA10591192

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063350T>A , CM000679.2:g.43063350T>A	GRCh38
NC_000017.10:g.41215367T>A , CM000679.1:g.41215367T>A	GRCh37
NC_000017.9:g.38468893T>A	NCBI36
NG_005905.2:g.154634A>T , LRG_292:g.154634A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5176A>T MANE Select	NP_009225.1:p.Arg1726Ter
ENST00000357654.9:c.5176A>T MANE Select	ENSP00000350283.3:p.Arg1726Ter
NM_007294.3:c.5176A>T , LRG_292t1:c.5176A>T	NP_009225.1:p.Arg1726Ter
NM_007297.3:c.5035A>T	NP_009228.2:p.Arg1679Ter
NM_007297.4:c.5035A>T	NP_009228.2:p.Arg1679Ter
NM_007298.3:c.1864A>T	NP_009229.2:p.Arg622Ter
NM_007299.3:c.1864A>T	NP_009230.2:p.Arg622Ter
NM_007299.4:c.1864A>T	NP_009230.2:p.Arg622Ter
NM_007300.3:c.5239A>T	NP_009231.2:p.Arg1747Ter
NM_007300.4:c.5239A>T	NP_009231.2:p.Arg1747Ter
NR_027676.1:n.5312A>T
NR_027676.2:n.5353A>T
ENST00000352993.7:c.1750A>T	ENSP00000312236.5:p.Arg584Ter
ENST00000357654.7:c.5176A>T	ENSP00000350283.3:p.Arg1726Ter
ENST00000461221.5:c.*4959A>T	ENSP00000418548.1:n.*4959A>T
ENST00000461574.2:c.5173A>T	ENSP00000417241.2:p.Arg1725Ter
ENST00000468300.5:c.1864A>T	ENSP00000417148.1:p.Arg622Ter
ENST00000470026.6:c.5176A>T	ENSP00000419274.2:p.Arg1726Ter
ENST00000471181.6:c.5239A>T	ENSP00000418960.2:p.Arg1747Ter
ENST00000471181.7:c.5239A>T	ENSP00000418960.2:p.Arg1747Ter
ENST00000473961.6:c.5050A>T	ENSP00000420201.2:p.Arg1684Ter
ENST00000476777.6:c.5170A>T	ENSP00000417554.2:p.Arg1724Ter
ENST00000477152.6:c.5098A>T	ENSP00000419988.2:p.Arg1700Ter
ENST00000478531.5:c.1864A>T	ENSP00000420412.1:p.Arg622Ter
ENST00000478531.6:c.1864A>T	ENSP00000420412.2:p.Arg622Ter
ENST00000484087.5:c.1489A>T	ENSP00000419481.1:p.Arg497Ter
ENST00000484087.6:c.1738A>T	ENSP00000419481.2:p.Arg580Ter
ENST00000489037.2:c.5098A>T	ENSP00000420781.2:p.Arg1700Ter
ENST00000491747.6:c.1864A>T	ENSP00000420705.2:p.Arg622Ter
ENST00000493795.5:c.5035A>T	ENSP00000418775.1:p.Arg1679Ter
ENST00000493919.6:c.1726A>T	ENSP00000418819.2:p.Arg576Ter
ENST00000494123.6:c.5176A>T	ENSP00000419103.2:p.Arg1726Ter
ENST00000497488.2:c.4288A>T	ENSP00000418986.2:p.Arg1430Ter
ENST00000586385.5:c.106A>T	ENSP00000465818.1:p.Arg36Ter
ENST00000591534.5:c.649A>T	ENSP00000467329.1:p.Arg217Ter
ENST00000591849.5:c.-98-13160A>T	ENSP00000465347.1:n.-98-13160A>T
ENST00000618469.2:c.5176A>T	ENSP00000478114.2:p.Arg1726Ter
ENST00000634433.2:c.5053A>T	ENSP00000489431.2:p.Arg1685Ter
ENST00000644379.1:c.1563A>T
ENST00000644379.2:c.5242A>T	ENSP00000496570.2:p.Arg1748Ter
ENST00000644555.2:c.1726A>T	ENSP00000494614.2:p.Arg576Ter
ENST00000652672.2:c.5035A>T	ENSP00000498906.2:p.Arg1679Ter