Canonical Allele Identifier: CA2260761914

Gene: BRCA1

Linked Data

• dbSNP Id: rs2050968075

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047573A>T , CM000679.2:g.43047573A>T	GRCh38
NC_000017.10:g.41199590A>T , CM000679.1:g.41199590A>T	GRCh37
NC_000017.9:g.38453116A>T	NCBI36
NG_005905.2:g.170411T>A , LRG_292:g.170411T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5464+70T>A	ENSP00000417241.2:n.5464+70T>A
ENST00000470026.6:c.5467+70T>A	ENSP00000419274.2:n.5467+70T>A
ENST00000473961.6:c.5341+70T>A	ENSP00000420201.2:n.5341+70T>A
ENST00000476777.6:c.5461+70T>A	ENSP00000417554.2:n.5461+70T>A
ENST00000477152.6:c.5389+70T>A	ENSP00000419988.2:n.5389+70T>A
ENST00000478531.6:c.2155+70T>A	ENSP00000420412.2:n.2155+70T>A
ENST00000489037.2:c.5389+70T>A	ENSP00000420781.2:n.5389+70T>A
ENST00000493919.6:c.2017+70T>A	ENSP00000418819.2:n.2017+70T>A
ENST00000494123.6:c.5467+70T>A	ENSP00000419103.2:n.5467+70T>A
ENST00000497488.2:c.4579+70T>A	ENSP00000418986.2:n.4579+70T>A
ENST00000618469.2:c.5467+70T>A	ENSP00000478114.2:n.5467+70T>A
ENST00000634433.2:c.5344+70T>A	ENSP00000489431.2:n.5344+70T>A
ENST00000644379.2:c.5533+70T>A	ENSP00000496570.2:n.5533+70T>A
ENST00000644555.2:c.2017+70T>A	ENSP00000494614.2:n.2017+70T>A
ENST00000652672.2:c.5326+70T>A	ENSP00000498906.2:n.5326+70T>A
ENST00000484087.6:c.2029+70T>A	ENSP00000419481.2:n.2029+70T>A
ENST00000700081.1:n.1350+70T>A
ENST00000700082.1:n.831+70T>A
ENST00000357654.9:c.5467+70T>A MANE Select	ENSP00000350283.3:n.5467+70T>A
ENST00000471181.7:c.5530+70T>A	ENSP00000418960.2:n.5530+70T>A
ENST00000644379.1:c.1854+70T>A
ENST00000352993.7:c.2041+70T>A	ENSP00000312236.5:n.2041+70T>A
ENST00000357654.7:c.5467+70T>A	ENSP00000350283.3:n.5467+70T>A
ENST00000461221.5:c.*5250+70T>A	ENSP00000418548.1:n.*5250+70T>A
ENST00000468300.5:c.2081+70T>A	ENSP00000417148.1:n.2081+70T>A
ENST00000471181.6:c.5530+70T>A	ENSP00000418960.2:n.5530+70T>A
ENST00000491747.6:c.2155+70T>A	ENSP00000420705.2:n.2155+70T>A
ENST00000493795.5:c.5326+70T>A	ENSP00000418775.1:n.5326+70T>A
ENST00000586385.5:c.397+70T>A	ENSP00000465818.1:n.397+70T>A
ENST00000591534.5:c.940+70T>A	ENSP00000467329.1:n.940+70T>A
ENST00000591849.5:c.166+70T>A	ENSP00000465347.1:n.166+70T>A
NM_007294.3:c.5467+70T>A , LRG_292t1:c.5467+70T>A	NP_009225.1:n.5467+70T>A
NM_007297.3:c.5326+70T>A	NP_009228.2:n.5326+70T>A
NM_007298.3:c.2155+70T>A	NP_009229.2:n.2155+70T>A
NM_007299.3:c.2081+70T>A	NP_009230.2:n.2081+70T>A
NM_007300.3:c.5530+70T>A	NP_009231.2:n.5530+70T>A
NR_027676.1:n.5603+70T>A
NM_007294.4:c.5467+70T>A MANE Select	NP_009225.1:n.5467+70T>A
NM_007297.4:c.5326+70T>A	NP_009228.2:n.5326+70T>A
NM_007299.4:c.2081+70T>A	NP_009230.2:n.2081+70T>A
NM_007300.4:c.5530+70T>A	NP_009231.2:n.5530+70T>A
NR_027676.2:n.5644+70T>A