Canonical Allele Identifier: CA10593569

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41243365T>A (hg19) ; chr17:g.43091348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091348T>A , CM000679.2:g.43091348T>A	GRCh38
NC_000017.10:g.41243365T>A , CM000679.1:g.41243365T>A	GRCh37
NC_000017.9:g.38496891T>A	NCBI36
NG_005905.2:g.126636A>T , LRG_292:g.126636A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4247A>T
ENST00000461574.2:c.4096+87A>T	ENSP00000417241.2:n.4096+87A>T
ENST00000470026.6:c.4096+87A>T	ENSP00000419274.2:n.4096+87A>T
ENST00000473961.6:c.3970+87A>T	ENSP00000420201.2:n.3970+87A>T
ENST00000476777.6:c.4093+87A>T	ENSP00000417554.2:n.4093+87A>T
ENST00000477152.6:c.4018+87A>T	ENSP00000419988.2:n.4018+87A>T
ENST00000478531.6:c.785-316A>T	ENSP00000420412.2:n.785-316A>T
ENST00000489037.2:c.4018+87A>T	ENSP00000420781.2:n.4018+87A>T
ENST00000493919.6:c.647-316A>T	ENSP00000418819.2:n.647-316A>T
ENST00000494123.6:c.4096+87A>T	ENSP00000419103.2:n.4096+87A>T
ENST00000497488.2:c.3208+87A>T	ENSP00000418986.2:n.3208+87A>T
ENST00000618469.2:c.4096+87A>T	ENSP00000478114.2:n.4096+87A>T
ENST00000634433.2:c.3973+87A>T	ENSP00000489431.2:n.3973+87A>T
ENST00000644379.2:c.4096+87A>T	ENSP00000496570.2:n.4096+87A>T
ENST00000644555.2:c.647-316A>T	ENSP00000494614.2:n.647-316A>T
ENST00000652672.2:c.3955+87A>T	ENSP00000498906.2:n.3955+87A>T
ENST00000484087.6:c.665-316A>T	ENSP00000419481.2:n.665-316A>T
ENST00000700182.1:c.707-316A>T	ENSP00000514849.1:n.707-316A>T
ENST00000357654.9:c.4096+87A>T MANE Select	ENSP00000350283.3:n.4096+87A>T
ENST00000471181.7:c.4096+87A>T	ENSP00000418960.2:n.4096+87A>T
ENST00000644379.1:c.417+87A>T
ENST00000352993.7:c.671-316A>T	ENSP00000312236.5:n.671-316A>T
ENST00000354071.7:c.4183A>T	ENSP00000326002.7:p.Ile1395Phe
ENST00000357654.7:c.4096+87A>T	ENSP00000350283.3:n.4096+87A>T
ENST00000461221.5:c.*3879+87A>T	ENSP00000418548.1:n.*3879+87A>T
ENST00000461574.1:c.390+87A>T
ENST00000468300.5:c.788-316A>T	ENSP00000417148.1:n.788-316A>T
ENST00000471181.6:c.4096+87A>T	ENSP00000418960.2:n.4096+87A>T
ENST00000478531.5:c.785-316A>T	ENSP00000420412.1:n.785-316A>T
ENST00000484087.5:c.410-316A>T	ENSP00000419481.1:n.410-316A>T
ENST00000487825.5:c.413-316A>T	ENSP00000418212.1:n.413-316A>T
ENST00000491747.6:c.788-316A>T	ENSP00000420705.2:n.788-316A>T
ENST00000493795.5:c.3955+87A>T	ENSP00000418775.1:n.3955+87A>T
ENST00000493919.5:c.647-316A>T	ENSP00000418819.1:n.647-316A>T
ENST00000586385.5:c.5-27397A>T	ENSP00000465818.1:n.5-27397A>T
ENST00000591534.5:c.-43-16827A>T	ENSP00000467329.1:n.-43-16827A>T
ENST00000591849.5:c.-99+33923A>T	ENSP00000465347.1:n.-99+33923A>T
NM_007294.3:c.4096+87A>T , LRG_292t1:c.4096+87A>T	NP_009225.1:n.4096+87A>T
NM_007297.3:c.3955+87A>T	NP_009228.2:n.3955+87A>T
NM_007298.3:c.788-316A>T	NP_009229.2:n.788-316A>T
NM_007299.3:c.788-316A>T	NP_009230.2:n.788-316A>T
NM_007300.3:c.4096+87A>T	NP_009231.2:n.4096+87A>T
NR_027676.1:n.4232+87A>T
NM_007294.4:c.4096+87A>T MANE Select	NP_009225.1:n.4096+87A>T
NM_007297.4:c.3955+87A>T	NP_009228.2:n.3955+87A>T
NM_007299.4:c.788-316A>T	NP_009230.2:n.788-316A>T
NM_007300.4:c.4096+87A>T	NP_009231.2:n.4096+87A>T
NR_027676.2:n.4273+87A>T