Canonical Allele Identifier: CA003616
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55587
dbSNP Id: rs80358062

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047635C>A , CM000679.2:g.43047635C>A GRCh38
NC_000017.10:g.41199652C>A , CM000679.1:g.41199652C>A GRCh37
NC_000017.9:g.38453178C>A NCBI36
NG_005905.2:g.170349G>T , LRG_292:g.170349G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5464+8G>T ENSP00000417241.2:n.5464+8G>T
ENST00000470026.6:c.5467+8G>T ENSP00000419274.2:n.5467+8G>T
ENST00000473961.6:c.5341+8G>T ENSP00000420201.2:n.5341+8G>T
ENST00000476777.6:c.5461+8G>T ENSP00000417554.2:n.5461+8G>T
ENST00000477152.6:c.5389+8G>T ENSP00000419988.2:n.5389+8G>T
ENST00000478531.6:c.2155+8G>T ENSP00000420412.2:n.2155+8G>T
ENST00000489037.2:c.5389+8G>T ENSP00000420781.2:n.5389+8G>T
ENST00000493919.6:c.2017+8G>T ENSP00000418819.2:n.2017+8G>T
ENST00000494123.6:c.5467+8G>T ENSP00000419103.2:n.5467+8G>T
ENST00000497488.2:c.4579+8G>T ENSP00000418986.2:n.4579+8G>T
ENST00000618469.2:c.5467+8G>T ENSP00000478114.2:n.5467+8G>T
ENST00000634433.2:c.5344+8G>T ENSP00000489431.2:n.5344+8G>T
ENST00000644379.2:c.5533+8G>T ENSP00000496570.2:n.5533+8G>T
ENST00000644555.2:c.2017+8G>T ENSP00000494614.2:n.2017+8G>T
ENST00000652672.2:c.5326+8G>T ENSP00000498906.2:n.5326+8G>T
ENST00000484087.6:c.2029+8G>T ENSP00000419481.2:n.2029+8G>T
ENST00000700081.1:n.1350+8G>T
ENST00000700082.1:n.831+8G>T
ENST00000357654.9:c.5467+8G>T MANE Select ENSP00000350283.3:n.5467+8G>T
ENST00000471181.7:c.5530+8G>T ENSP00000418960.2:n.5530+8G>T
ENST00000644379.1:c.1854+8G>T
ENST00000352993.7:c.2041+8G>T ENSP00000312236.5:n.2041+8G>T
ENST00000357654.7:c.5467+8G>T ENSP00000350283.3:n.5467+8G>T
ENST00000461221.5:c.*5250+8G>T ENSP00000418548.1:n.*5250+8G>T
ENST00000468300.5:c.2081+8G>T ENSP00000417148.1:n.2081+8G>T
ENST00000471181.6:c.5530+8G>T ENSP00000418960.2:n.5530+8G>T
ENST00000491747.6:c.2155+8G>T ENSP00000420705.2:n.2155+8G>T
ENST00000493795.5:c.5326+8G>T ENSP00000418775.1:n.5326+8G>T
ENST00000586385.5:c.397+8G>T ENSP00000465818.1:n.397+8G>T
ENST00000591534.5:c.940+8G>T ENSP00000467329.1:n.940+8G>T
ENST00000591849.5:c.166+8G>T ENSP00000465347.1:n.166+8G>T
NM_007294.3:c.5467+8G>T , LRG_292t1:c.5467+8G>T NP_009225.1:n.5467+8G>T
NM_007297.3:c.5326+8G>T NP_009228.2:n.5326+8G>T
NM_007298.3:c.2155+8G>T NP_009229.2:n.2155+8G>T
NM_007299.3:c.2081+8G>T NP_009230.2:n.2081+8G>T
NM_007300.3:c.5530+8G>T NP_009231.2:n.5530+8G>T
NR_027676.1:n.5603+8G>T
NM_007294.4:c.5467+8G>T MANE Select NP_009225.1:n.5467+8G>T
NM_007297.4:c.5326+8G>T NP_009228.2:n.5326+8G>T
NM_007299.4:c.2081+8G>T NP_009230.2:n.2081+8G>T
NM_007300.4:c.5530+8G>T NP_009231.2:n.5530+8G>T
NR_027676.2:n.5644+8G>T