Canonical Allele Identifier: CA2260778056

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082536G= , CM000679.2:g.43082536G=	GRCh38
NC_000017.10:g.41234553G= , CM000679.1:g.41234553G=	GRCh37
NC_000017.9:g.38488079G=	NCBI36
NG_005905.2:g.135448C= , LRG_292:g.135448C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4225C=	ENSP00000417241.2:p.Gln1409=
ENST00000470026.6:c.4225C=	ENSP00000419274.2:p.Gln1409=
ENST00000473961.6:c.4099C=	ENSP00000420201.2:p.Gln1367=
ENST00000476777.6:c.4219C=	ENSP00000417554.2:p.Gln1407=
ENST00000477152.6:c.4147C=	ENSP00000419988.2:p.Gln1383=
ENST00000478531.6:c.913C=	ENSP00000420412.2:p.Gln305=
ENST00000489037.2:c.4147C=	ENSP00000420781.2:p.Gln1383=
ENST00000493919.6:c.775C=	ENSP00000418819.2:p.Gln259=
ENST00000494123.6:c.4225C=	ENSP00000419103.2:p.Gln1409=
ENST00000497488.2:c.3337C=	ENSP00000418986.2:p.Gln1113=
ENST00000618469.2:c.4225C=	ENSP00000478114.2:p.Gln1409=
ENST00000634433.2:c.4102C=	ENSP00000489431.2:p.Gln1368=
ENST00000644379.2:c.4225C=	ENSP00000496570.2:p.Gln1409=
ENST00000644555.2:c.775C=	ENSP00000494614.2:p.Gln259=
ENST00000652672.2:c.4084C=	ENSP00000498906.2:p.Gln1362=
ENST00000484087.6:c.790C=	ENSP00000419481.2:p.Gln264=
ENST00000700182.1:c.835C=	ENSP00000514849.1:p.Gln279=
ENST00000357654.9:c.4225C= MANE Select	ENSP00000350283.3:p.Gln1409=
ENST00000471181.7:c.4225C=	ENSP00000418960.2:p.Gln1409=
ENST00000644379.1:c.546C=
ENST00000352993.7:c.799C=	ENSP00000312236.5:p.Gln267=
ENST00000357654.7:c.4225C=	ENSP00000350283.3:p.Gln1409=
ENST00000461221.5:c.*4008C=	ENSP00000418548.1:n.*4008C=
ENST00000461574.1:c.519C=
ENST00000468300.5:c.916C=	ENSP00000417148.1:p.Gln306=
ENST00000471181.6:c.4225C=	ENSP00000418960.2:p.Gln1409=
ENST00000478531.5:c.913C=	ENSP00000420412.1:p.Gln305=
ENST00000484087.5:c.538C=	ENSP00000419481.1:p.Gln180=
ENST00000487825.5:c.541C=	ENSP00000418212.1:p.Gln181=
ENST00000491747.6:c.916C=	ENSP00000420705.2:p.Gln306=
ENST00000493795.5:c.4084C=	ENSP00000418775.1:p.Gln1362=
ENST00000493919.5:c.775C=	ENSP00000418819.1:p.Gln259=
ENST00000586385.5:c.5-18585C=	ENSP00000465818.1:n.5-18585C=
ENST00000591534.5:c.-43-8015C=	ENSP00000467329.1:n.-43-8015C=
ENST00000591849.5:c.-98-32346C=	ENSP00000465347.1:n.-98-32346C=
ENST00000621897.1:n.119C=
NM_007294.3:c.4225C= , LRG_292t1:c.4225C=	NP_009225.1:p.Gln1409=
NM_007297.3:c.4084C=	NP_009228.2:p.Gln1362=
NM_007298.3:c.916C=	NP_009229.2:p.Gln306=
NM_007299.3:c.916C=	NP_009230.2:p.Gln306=
NM_007300.3:c.4225C=	NP_009231.2:p.Gln1409=
NR_027676.1:n.4361C=
NM_007294.4:c.4225C= MANE Select	NP_009225.1:p.Gln1409=
NM_007297.4:c.4084C=	NP_009228.2:p.Gln1362=
NM_007299.4:c.916C=	NP_009230.2:p.Gln306=
NM_007300.4:c.4225C=	NP_009231.2:p.Gln1409=
NR_027676.2:n.4402C=