Canonical Allele Identifier: CA2260772750

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070942T= , CM000679.2:g.43070942T=	GRCh38
NC_000017.10:g.41222959T= , CM000679.1:g.41222959T=	GRCh37
NC_000017.9:g.38476485T=	NCBI36
NG_005905.2:g.147042A= , LRG_292:g.147042A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4969A=	ENSP00000417241.2:p.Thr1657=
ENST00000470026.6:c.4972A=	ENSP00000419274.2:p.Thr1658=
ENST00000473961.6:c.4846A=	ENSP00000420201.2:p.Thr1616=
ENST00000476777.6:c.4966A=	ENSP00000417554.2:p.Thr1656=
ENST00000477152.6:c.4894A=	ENSP00000419988.2:p.Thr1632=
ENST00000478531.6:c.1660A=	ENSP00000420412.2:p.Thr554=
ENST00000489037.2:c.4894A=	ENSP00000420781.2:p.Thr1632=
ENST00000493919.6:c.1522A=	ENSP00000418819.2:p.Thr508=
ENST00000494123.6:c.4972A=	ENSP00000419103.2:p.Thr1658=
ENST00000497488.2:c.4084A=	ENSP00000418986.2:p.Thr1362=
ENST00000618469.2:c.4972A=	ENSP00000478114.2:p.Thr1658=
ENST00000634433.2:c.4849A=	ENSP00000489431.2:p.Thr1617=
ENST00000644379.2:c.5038A=	ENSP00000496570.2:p.Thr1680=
ENST00000644555.2:c.1522A=	ENSP00000494614.2:p.Thr508=
ENST00000652672.2:c.4831A=	ENSP00000498906.2:p.Thr1611=
ENST00000484087.6:c.1534A=	ENSP00000419481.2:p.Thr512=
ENST00000700182.1:c.1579A=	ENSP00000514849.1:p.Thr527=
ENST00000357654.9:c.4972A= MANE Select	ENSP00000350283.3:p.Thr1658=
ENST00000471181.7:c.5035A=	ENSP00000418960.2:p.Thr1679=
ENST00000644379.1:c.1359A=
ENST00000352993.7:c.1546A=	ENSP00000312236.5:p.Thr516=
ENST00000357654.7:c.4972A=	ENSP00000350283.3:p.Thr1658=
ENST00000461221.5:c.*4755A=	ENSP00000418548.1:n.*4755A=
ENST00000468300.5:c.1660A=	ENSP00000417148.1:p.Thr554=
ENST00000471181.6:c.5035A=	ENSP00000418960.2:p.Thr1679=
ENST00000472490.1:n.125A=
ENST00000478531.5:c.1660A=	ENSP00000420412.1:p.Thr554=
ENST00000484087.5:c.1285A=	ENSP00000419481.1:p.Thr429=
ENST00000491747.6:c.1660A=	ENSP00000420705.2:p.Thr554=
ENST00000493795.5:c.4831A=	ENSP00000418775.1:p.Thr1611=
ENST00000493919.5:c.1522A=	ENSP00000418819.1:p.Thr508=
ENST00000586385.5:c.5-6991A=	ENSP00000465818.1:n.5-6991A=
ENST00000591534.5:c.445A=	ENSP00000467329.1:p.Thr149=
ENST00000591849.5:c.-98-20752A=	ENSP00000465347.1:n.-98-20752A=
NM_007294.3:c.4972A= , LRG_292t1:c.4972A=	NP_009225.1:p.Thr1658=
NM_007297.3:c.4831A=	NP_009228.2:p.Thr1611=
NM_007298.3:c.1660A=	NP_009229.2:p.Thr554=
NM_007299.3:c.1660A=	NP_009230.2:p.Thr554=
NM_007300.3:c.5035A=	NP_009231.2:p.Thr1679=
NR_027676.1:n.5108A=
NM_007294.4:c.4972A= MANE Select	NP_009225.1:p.Thr1658=
NM_007297.4:c.4831A=	NP_009228.2:p.Thr1611=
NM_007299.4:c.1660A=	NP_009230.2:p.Thr554=
NM_007300.4:c.5035A=	NP_009231.2:p.Thr1679=
NR_027676.2:n.5149A=