Canonical Allele Identifier: CA2260769072

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063119A= , CM000679.2:g.43063119A=	GRCh38
NC_000017.10:g.41215136A= , CM000679.1:g.41215136A=	GRCh37
NC_000017.9:g.38468662A=	NCBI36
NG_005905.2:g.154865T= , LRG_292:g.154865T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5190+214T=	ENSP00000417241.2:n.5190+214T=
ENST00000470026.6:c.5193+214T=	ENSP00000419274.2:n.5193+214T=
ENST00000473961.6:c.5067+214T=	ENSP00000420201.2:n.5067+214T=
ENST00000476777.6:c.5187+214T=	ENSP00000417554.2:n.5187+214T=
ENST00000477152.6:c.5115+214T=	ENSP00000419988.2:n.5115+214T=
ENST00000478531.6:c.1881+214T=	ENSP00000420412.2:n.1881+214T=
ENST00000489037.2:c.5115+214T=	ENSP00000420781.2:n.5115+214T=
ENST00000493919.6:c.1743+214T=	ENSP00000418819.2:n.1743+214T=
ENST00000494123.6:c.5193+214T=	ENSP00000419103.2:n.5193+214T=
ENST00000497488.2:c.4305+214T=	ENSP00000418986.2:n.4305+214T=
ENST00000618469.2:c.5193+214T=	ENSP00000478114.2:n.5193+214T=
ENST00000634433.2:c.5070+214T=	ENSP00000489431.2:n.5070+214T=
ENST00000644379.2:c.5259+214T=	ENSP00000496570.2:n.5259+214T=
ENST00000644555.2:c.1743+214T=	ENSP00000494614.2:n.1743+214T=
ENST00000652672.2:c.5052+214T=	ENSP00000498906.2:n.5052+214T=
ENST00000484087.6:c.1755+214T=	ENSP00000419481.2:n.1755+214T=
ENST00000357654.9:c.5193+214T= MANE Select	ENSP00000350283.3:n.5193+214T=
ENST00000471181.7:c.5256+214T=	ENSP00000418960.2:n.5256+214T=
ENST00000644379.1:c.1580+214T=
ENST00000352993.7:c.1767+214T=	ENSP00000312236.5:n.1767+214T=
ENST00000357654.7:c.5193+214T=	ENSP00000350283.3:n.5193+214T=
ENST00000461221.5:c.*4976+214T=	ENSP00000418548.1:n.*4976+214T=
ENST00000468300.5:c.1881+214T=	ENSP00000417148.1:n.1881+214T=
ENST00000471181.6:c.5256+214T=	ENSP00000418960.2:n.5256+214T=
ENST00000491747.6:c.1881+214T=	ENSP00000420705.2:n.1881+214T=
ENST00000493795.5:c.5052+214T=	ENSP00000418775.1:n.5052+214T=
ENST00000586385.5:c.123+214T=	ENSP00000465818.1:n.123+214T=
ENST00000591534.5:c.666+214T=	ENSP00000467329.1:n.666+214T=
ENST00000591849.5:c.-98-12929T=	ENSP00000465347.1:n.-98-12929T=
NM_007294.3:c.5193+214T= , LRG_292t1:c.5193+214T=	NP_009225.1:n.5193+214T=
NM_007297.3:c.5052+214T=	NP_009228.2:n.5052+214T=
NM_007298.3:c.1881+214T=	NP_009229.2:n.1881+214T=
NM_007299.3:c.1881+214T=	NP_009230.2:n.1881+214T=
NM_007300.3:c.5256+214T=	NP_009231.2:n.5256+214T=
NR_027676.1:n.5329+214T=
NM_007294.4:c.5193+214T= MANE Select	NP_009225.1:n.5193+214T=
NM_007297.4:c.5052+214T=	NP_009228.2:n.5052+214T=
NM_007299.4:c.1881+214T=	NP_009230.2:n.1881+214T=
NM_007300.4:c.5256+214T=	NP_009231.2:n.5256+214T=
NR_027676.2:n.5370+214T=