Canonical Allele Identifier: CA10593136

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234486G>C (hg19) ; chr17:g.43082469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082469G>C , CM000679.2:g.43082469G>C	GRCh38
NC_000017.10:g.41234486G>C , CM000679.1:g.41234486G>C	GRCh37
NC_000017.9:g.38488012G>C	NCBI36
NG_005905.2:g.135515C>G , LRG_292:g.135515C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4292C>G	ENSP00000417241.2:p.Ser1431Cys
ENST00000470026.6:c.4292C>G	ENSP00000419274.2:p.Ser1431Cys
ENST00000473961.6:c.4166C>G	ENSP00000420201.2:p.Ser1389Cys
ENST00000476777.6:c.4286C>G	ENSP00000417554.2:p.Ser1429Cys
ENST00000477152.6:c.4214C>G	ENSP00000419988.2:p.Ser1405Cys
ENST00000478531.6:c.980C>G	ENSP00000420412.2:p.Ser327Cys
ENST00000489037.2:c.4214C>G	ENSP00000420781.2:p.Ser1405Cys
ENST00000493919.6:c.842C>G	ENSP00000418819.2:p.Ser281Cys
ENST00000494123.6:c.4292C>G	ENSP00000419103.2:p.Ser1431Cys
ENST00000497488.2:c.3404C>G	ENSP00000418986.2:p.Ser1135Cys
ENST00000618469.2:c.4292C>G	ENSP00000478114.2:p.Ser1431Cys
ENST00000634433.2:c.4169C>G	ENSP00000489431.2:p.Ser1390Cys
ENST00000644379.2:c.4292C>G	ENSP00000496570.2:p.Ser1431Cys
ENST00000644555.2:c.842C>G	ENSP00000494614.2:p.Ser281Cys
ENST00000652672.2:c.4151C>G	ENSP00000498906.2:p.Ser1384Cys
ENST00000484087.6:c.857C>G	ENSP00000419481.2:p.Ser286Cys
ENST00000700182.1:c.902C>G	ENSP00000514849.1:p.Ser301Cys
ENST00000357654.9:c.4292C>G MANE Select	ENSP00000350283.3:p.Ser1431Cys
ENST00000471181.7:c.4292C>G	ENSP00000418960.2:p.Ser1431Cys
ENST00000644379.1:c.613C>G
ENST00000352993.7:c.866C>G	ENSP00000312236.5:p.Ser289Cys
ENST00000357654.7:c.4292C>G	ENSP00000350283.3:p.Ser1431Cys
ENST00000461221.5:c.*4075C>G	ENSP00000418548.1:n.*4075C>G
ENST00000461574.1:c.586C>G
ENST00000468300.5:c.983C>G	ENSP00000417148.1:p.Ser328Cys
ENST00000471181.6:c.4292C>G	ENSP00000418960.2:p.Ser1431Cys
ENST00000478531.5:c.980C>G	ENSP00000420412.1:p.Ser327Cys
ENST00000484087.5:c.605C>G	ENSP00000419481.1:p.Ser202Cys
ENST00000487825.5:c.608C>G	ENSP00000418212.1:p.Ser203Cys
ENST00000491747.6:c.983C>G	ENSP00000420705.2:p.Ser328Cys
ENST00000493795.5:c.4151C>G	ENSP00000418775.1:p.Ser1384Cys
ENST00000493919.5:c.842C>G	ENSP00000418819.1:p.Ser281Cys
ENST00000586385.5:c.5-18518C>G	ENSP00000465818.1:n.5-18518C>G
ENST00000591534.5:c.-43-7948C>G	ENSP00000467329.1:n.-43-7948C>G
ENST00000591849.5:c.-98-32279C>G	ENSP00000465347.1:n.-98-32279C>G
ENST00000621897.1:n.186C>G
NM_007294.3:c.4292C>G , LRG_292t1:c.4292C>G	NP_009225.1:p.Ser1431Cys
NM_007297.3:c.4151C>G	NP_009228.2:p.Ser1384Cys
NM_007298.3:c.983C>G	NP_009229.2:p.Ser328Cys
NM_007299.3:c.983C>G	NP_009230.2:p.Ser328Cys
NM_007300.3:c.4292C>G	NP_009231.2:p.Ser1431Cys
NR_027676.1:n.4428C>G
NM_007294.4:c.4292C>G MANE Select	NP_009225.1:p.Ser1431Cys
NM_007297.4:c.4151C>G	NP_009228.2:p.Ser1384Cys
NM_007299.4:c.983C>G	NP_009230.2:p.Ser328Cys
NM_007300.4:c.4292C>G	NP_009231.2:p.Ser1431Cys
NR_027676.2:n.4469C>G