Canonical Allele Identifier: CA10593216

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154155348
• MyVariant Identifiers: chr17:g.41234526A>C (hg19) ; chr17:g.43082509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082509A>C , CM000679.2:g.43082509A>C	GRCh38
NC_000017.10:g.41234526A>C , CM000679.1:g.41234526A>C	GRCh37
NC_000017.9:g.38488052A>C	NCBI36
NG_005905.2:g.135475T>G , LRG_292:g.135475T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4252T>G	ENSP00000417241.2:p.Leu1418Val
ENST00000470026.6:c.4252T>G	ENSP00000419274.2:p.Leu1418Val
ENST00000473961.6:c.4126T>G	ENSP00000420201.2:p.Leu1376Val
ENST00000476777.6:c.4246T>G	ENSP00000417554.2:p.Leu1416Val
ENST00000477152.6:c.4174T>G	ENSP00000419988.2:p.Leu1392Val
ENST00000478531.6:c.940T>G	ENSP00000420412.2:p.Leu314Val
ENST00000489037.2:c.4174T>G	ENSP00000420781.2:p.Leu1392Val
ENST00000493919.6:c.802T>G	ENSP00000418819.2:p.Leu268Val
ENST00000494123.6:c.4252T>G	ENSP00000419103.2:p.Leu1418Val
ENST00000497488.2:c.3364T>G	ENSP00000418986.2:p.Leu1122Val
ENST00000618469.2:c.4252T>G	ENSP00000478114.2:p.Leu1418Val
ENST00000634433.2:c.4129T>G	ENSP00000489431.2:p.Leu1377Val
ENST00000644379.2:c.4252T>G	ENSP00000496570.2:p.Leu1418Val
ENST00000644555.2:c.802T>G	ENSP00000494614.2:p.Leu268Val
ENST00000652672.2:c.4111T>G	ENSP00000498906.2:p.Leu1371Val
ENST00000484087.6:c.817T>G	ENSP00000419481.2:p.Leu273Val
ENST00000700182.1:c.862T>G	ENSP00000514849.1:p.Leu288Val
ENST00000357654.9:c.4252T>G MANE Select	ENSP00000350283.3:p.Leu1418Val
ENST00000471181.7:c.4252T>G	ENSP00000418960.2:p.Leu1418Val
ENST00000644379.1:c.573T>G
ENST00000352993.7:c.826T>G	ENSP00000312236.5:p.Leu276Val
ENST00000357654.7:c.4252T>G	ENSP00000350283.3:p.Leu1418Val
ENST00000461221.5:c.*4035T>G	ENSP00000418548.1:n.*4035T>G
ENST00000461574.1:c.546T>G
ENST00000468300.5:c.943T>G	ENSP00000417148.1:p.Leu315Val
ENST00000471181.6:c.4252T>G	ENSP00000418960.2:p.Leu1418Val
ENST00000478531.5:c.940T>G	ENSP00000420412.1:p.Leu314Val
ENST00000484087.5:c.565T>G	ENSP00000419481.1:p.Leu189Val
ENST00000487825.5:c.568T>G	ENSP00000418212.1:p.Leu190Val
ENST00000491747.6:c.943T>G	ENSP00000420705.2:p.Leu315Val
ENST00000493795.5:c.4111T>G	ENSP00000418775.1:p.Leu1371Val
ENST00000493919.5:c.802T>G	ENSP00000418819.1:p.Leu268Val
ENST00000586385.5:c.5-18558T>G	ENSP00000465818.1:n.5-18558T>G
ENST00000591534.5:c.-43-7988T>G	ENSP00000467329.1:n.-43-7988T>G
ENST00000591849.5:c.-98-32319T>G	ENSP00000465347.1:n.-98-32319T>G
ENST00000621897.1:n.146T>G
NM_007294.3:c.4252T>G , LRG_292t1:c.4252T>G	NP_009225.1:p.Leu1418Val
NM_007297.3:c.4111T>G	NP_009228.2:p.Leu1371Val
NM_007298.3:c.943T>G	NP_009229.2:p.Leu315Val
NM_007299.3:c.943T>G	NP_009230.2:p.Leu315Val
NM_007300.3:c.4252T>G	NP_009231.2:p.Leu1418Val
NR_027676.1:n.4388T>G
NM_007294.4:c.4252T>G MANE Select	NP_009225.1:p.Leu1418Val
NM_007297.4:c.4111T>G	NP_009228.2:p.Leu1371Val
NM_007299.4:c.943T>G	NP_009230.2:p.Leu315Val
NM_007300.4:c.4252T>G	NP_009231.2:p.Leu1418Val
NR_027676.2:n.4429T>G