Canonical Allele Identifier: CA10593067

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082433C>A , CM000679.2:g.43082433C>A	GRCh38
NC_000017.10:g.41234450C>A , CM000679.1:g.41234450C>A	GRCh37
NC_000017.9:g.38487976C>A	NCBI36
NG_005905.2:g.135551G>T , LRG_292:g.135551G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4328G>T MANE Select	NP_009225.1:p.Arg1443Leu
ENST00000357654.9:c.4328G>T MANE Select	ENSP00000350283.3:p.Arg1443Leu
NM_007294.3:c.4328G>T , LRG_292t1:c.4328G>T	NP_009225.1:p.Arg1443Leu
NM_007297.3:c.4187G>T	NP_009228.2:p.Arg1396Leu
NM_007297.4:c.4187G>T	NP_009228.2:p.Arg1396Leu
NM_007298.3:c.1019G>T	NP_009229.2:p.Arg340Leu
NM_007299.3:c.1019G>T	NP_009230.2:p.Arg340Leu
NM_007299.4:c.1019G>T	NP_009230.2:p.Arg340Leu
NM_007300.3:c.4328G>T	NP_009231.2:p.Arg1443Leu
NM_007300.4:c.4328G>T	NP_009231.2:p.Arg1443Leu
NR_027676.1:n.4464G>T
NR_027676.2:n.4505G>T
ENST00000352993.7:c.902G>T	ENSP00000312236.5:p.Arg301Leu
ENST00000357654.7:c.4328G>T	ENSP00000350283.3:p.Arg1443Leu
ENST00000461221.5:c.*4111G>T	ENSP00000418548.1:n.*4111G>T
ENST00000461574.1:c.622G>T
ENST00000461574.2:c.4328G>T	ENSP00000417241.2:p.Arg1443Leu
ENST00000468300.5:c.1019G>T	ENSP00000417148.1:p.Arg340Leu
ENST00000470026.6:c.4328G>T	ENSP00000419274.2:p.Arg1443Leu
ENST00000471181.6:c.4328G>T	ENSP00000418960.2:p.Arg1443Leu
ENST00000471181.7:c.4328G>T	ENSP00000418960.2:p.Arg1443Leu
ENST00000473961.6:c.4202G>T	ENSP00000420201.2:p.Arg1401Leu
ENST00000476777.6:c.4322G>T	ENSP00000417554.2:p.Arg1441Leu
ENST00000477152.6:c.4250G>T	ENSP00000419988.2:p.Arg1417Leu
ENST00000478531.5:c.1016G>T	ENSP00000420412.1:p.Arg339Leu
ENST00000478531.6:c.1016G>T	ENSP00000420412.2:p.Arg339Leu
ENST00000484087.5:c.641G>T	ENSP00000419481.1:p.Arg214Leu
ENST00000484087.6:c.893G>T	ENSP00000419481.2:p.Arg298Leu
ENST00000487825.5:c.644G>T	ENSP00000418212.1:p.Arg215Leu
ENST00000489037.2:c.4250G>T	ENSP00000420781.2:p.Arg1417Leu
ENST00000491747.6:c.1019G>T	ENSP00000420705.2:p.Arg340Leu
ENST00000493795.5:c.4187G>T	ENSP00000418775.1:p.Arg1396Leu
ENST00000493919.5:c.878G>T	ENSP00000418819.1:p.Arg293Leu
ENST00000493919.6:c.878G>T	ENSP00000418819.2:p.Arg293Leu
ENST00000494123.6:c.4328G>T	ENSP00000419103.2:p.Arg1443Leu
ENST00000497488.2:c.3440G>T	ENSP00000418986.2:p.Arg1147Leu
ENST00000586385.5:c.5-18482G>T	ENSP00000465818.1:n.5-18482G>T
ENST00000591534.5:c.-43-7912G>T	ENSP00000467329.1:n.-43-7912G>T
ENST00000591849.5:c.-98-32243G>T	ENSP00000465347.1:n.-98-32243G>T
ENST00000618469.2:c.4328G>T	ENSP00000478114.2:p.Arg1443Leu
ENST00000621897.1:n.222G>T
ENST00000634433.2:c.4205G>T	ENSP00000489431.2:p.Arg1402Leu
ENST00000644379.1:c.649G>T
ENST00000644379.2:c.4328G>T	ENSP00000496570.2:p.Arg1443Leu
ENST00000644555.2:c.878G>T	ENSP00000494614.2:p.Arg293Leu
ENST00000652672.2:c.4187G>T	ENSP00000498906.2:p.Arg1396Leu
ENST00000700182.1:c.938G>T	ENSP00000514849.1:p.Arg313Leu