Canonical Allele Identifier: CA10593245

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234540T>G (hg19) ; chr17:g.43082523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082523T>G , CM000679.2:g.43082523T>G	GRCh38
NC_000017.10:g.41234540T>G , CM000679.1:g.41234540T>G	GRCh37
NC_000017.9:g.38488066T>G	NCBI36
NG_005905.2:g.135461A>C , LRG_292:g.135461A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4238A>C	ENSP00000417241.2:p.Glu1413Ala
ENST00000470026.6:c.4238A>C	ENSP00000419274.2:p.Glu1413Ala
ENST00000473961.6:c.4112A>C	ENSP00000420201.2:p.Glu1371Ala
ENST00000476777.6:c.4232A>C	ENSP00000417554.2:p.Glu1411Ala
ENST00000477152.6:c.4160A>C	ENSP00000419988.2:p.Glu1387Ala
ENST00000478531.6:c.926A>C	ENSP00000420412.2:p.Glu309Ala
ENST00000489037.2:c.4160A>C	ENSP00000420781.2:p.Glu1387Ala
ENST00000493919.6:c.788A>C	ENSP00000418819.2:p.Glu263Ala
ENST00000494123.6:c.4238A>C	ENSP00000419103.2:p.Glu1413Ala
ENST00000497488.2:c.3350A>C	ENSP00000418986.2:p.Glu1117Ala
ENST00000618469.2:c.4238A>C	ENSP00000478114.2:p.Glu1413Ala
ENST00000634433.2:c.4115A>C	ENSP00000489431.2:p.Glu1372Ala
ENST00000644379.2:c.4238A>C	ENSP00000496570.2:p.Glu1413Ala
ENST00000644555.2:c.788A>C	ENSP00000494614.2:p.Glu263Ala
ENST00000652672.2:c.4097A>C	ENSP00000498906.2:p.Glu1366Ala
ENST00000484087.6:c.803A>C	ENSP00000419481.2:p.Glu268Ala
ENST00000700182.1:c.848A>C	ENSP00000514849.1:p.Glu283Ala
ENST00000357654.9:c.4238A>C MANE Select	ENSP00000350283.3:p.Glu1413Ala
ENST00000471181.7:c.4238A>C	ENSP00000418960.2:p.Glu1413Ala
ENST00000644379.1:c.559A>C
ENST00000352993.7:c.812A>C	ENSP00000312236.5:p.Glu271Ala
ENST00000357654.7:c.4238A>C	ENSP00000350283.3:p.Glu1413Ala
ENST00000461221.5:c.*4021A>C	ENSP00000418548.1:n.*4021A>C
ENST00000461574.1:c.532A>C
ENST00000468300.5:c.929A>C	ENSP00000417148.1:p.Glu310Ala
ENST00000471181.6:c.4238A>C	ENSP00000418960.2:p.Glu1413Ala
ENST00000478531.5:c.926A>C	ENSP00000420412.1:p.Glu309Ala
ENST00000484087.5:c.551A>C	ENSP00000419481.1:p.Glu184Ala
ENST00000487825.5:c.554A>C	ENSP00000418212.1:p.Glu185Ala
ENST00000491747.6:c.929A>C	ENSP00000420705.2:p.Glu310Ala
ENST00000493795.5:c.4097A>C	ENSP00000418775.1:p.Glu1366Ala
ENST00000493919.5:c.788A>C	ENSP00000418819.1:p.Glu263Ala
ENST00000586385.5:c.5-18572A>C	ENSP00000465818.1:n.5-18572A>C
ENST00000591534.5:c.-43-8002A>C	ENSP00000467329.1:n.-43-8002A>C
ENST00000591849.5:c.-98-32333A>C	ENSP00000465347.1:n.-98-32333A>C
ENST00000621897.1:n.132A>C
NM_007294.3:c.4238A>C , LRG_292t1:c.4238A>C	NP_009225.1:p.Glu1413Ala
NM_007297.3:c.4097A>C	NP_009228.2:p.Glu1366Ala
NM_007298.3:c.929A>C	NP_009229.2:p.Glu310Ala
NM_007299.3:c.929A>C	NP_009230.2:p.Glu310Ala
NM_007300.3:c.4238A>C	NP_009231.2:p.Glu1413Ala
NR_027676.1:n.4374A>C
NM_007294.4:c.4238A>C MANE Select	NP_009225.1:p.Glu1413Ala
NM_007297.4:c.4097A>C	NP_009228.2:p.Glu1366Ala
NM_007299.4:c.929A>C	NP_009230.2:p.Glu310Ala
NM_007300.4:c.4238A>C	NP_009231.2:p.Glu1413Ala
NR_027676.2:n.4415A>C