Canonical Allele Identifier: CA10593232

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234534T>A (hg19) ; chr17:g.43082517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082517T>A , CM000679.2:g.43082517T>A	GRCh38
NC_000017.10:g.41234534T>A , CM000679.1:g.41234534T>A	GRCh37
NC_000017.9:g.38488060T>A	NCBI36
NG_005905.2:g.135467A>T , LRG_292:g.135467A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4244A>T	ENSP00000417241.2:p.Glu1415Val
ENST00000470026.6:c.4244A>T	ENSP00000419274.2:p.Glu1415Val
ENST00000473961.6:c.4118A>T	ENSP00000420201.2:p.Glu1373Val
ENST00000476777.6:c.4238A>T	ENSP00000417554.2:p.Glu1413Val
ENST00000477152.6:c.4166A>T	ENSP00000419988.2:p.Glu1389Val
ENST00000478531.6:c.932A>T	ENSP00000420412.2:p.Glu311Val
ENST00000489037.2:c.4166A>T	ENSP00000420781.2:p.Glu1389Val
ENST00000493919.6:c.794A>T	ENSP00000418819.2:p.Glu265Val
ENST00000494123.6:c.4244A>T	ENSP00000419103.2:p.Glu1415Val
ENST00000497488.2:c.3356A>T	ENSP00000418986.2:p.Glu1119Val
ENST00000618469.2:c.4244A>T	ENSP00000478114.2:p.Glu1415Val
ENST00000634433.2:c.4121A>T	ENSP00000489431.2:p.Glu1374Val
ENST00000644379.2:c.4244A>T	ENSP00000496570.2:p.Glu1415Val
ENST00000644555.2:c.794A>T	ENSP00000494614.2:p.Glu265Val
ENST00000652672.2:c.4103A>T	ENSP00000498906.2:p.Glu1368Val
ENST00000484087.6:c.809A>T	ENSP00000419481.2:p.Glu270Val
ENST00000700182.1:c.854A>T	ENSP00000514849.1:p.Glu285Val
ENST00000357654.9:c.4244A>T MANE Select	ENSP00000350283.3:p.Glu1415Val
ENST00000471181.7:c.4244A>T	ENSP00000418960.2:p.Glu1415Val
ENST00000644379.1:c.565A>T
ENST00000352993.7:c.818A>T	ENSP00000312236.5:p.Glu273Val
ENST00000357654.7:c.4244A>T	ENSP00000350283.3:p.Glu1415Val
ENST00000461221.5:c.*4027A>T	ENSP00000418548.1:n.*4027A>T
ENST00000461574.1:c.538A>T
ENST00000468300.5:c.935A>T	ENSP00000417148.1:p.Glu312Val
ENST00000471181.6:c.4244A>T	ENSP00000418960.2:p.Glu1415Val
ENST00000478531.5:c.932A>T	ENSP00000420412.1:p.Glu311Val
ENST00000484087.5:c.557A>T	ENSP00000419481.1:p.Glu186Val
ENST00000487825.5:c.560A>T	ENSP00000418212.1:p.Glu187Val
ENST00000491747.6:c.935A>T	ENSP00000420705.2:p.Glu312Val
ENST00000493795.5:c.4103A>T	ENSP00000418775.1:p.Glu1368Val
ENST00000493919.5:c.794A>T	ENSP00000418819.1:p.Glu265Val
ENST00000586385.5:c.5-18566A>T	ENSP00000465818.1:n.5-18566A>T
ENST00000591534.5:c.-43-7996A>T	ENSP00000467329.1:n.-43-7996A>T
ENST00000591849.5:c.-98-32327A>T	ENSP00000465347.1:n.-98-32327A>T
ENST00000621897.1:n.138A>T
NM_007294.3:c.4244A>T , LRG_292t1:c.4244A>T	NP_009225.1:p.Glu1415Val
NM_007297.3:c.4103A>T	NP_009228.2:p.Glu1368Val
NM_007298.3:c.935A>T	NP_009229.2:p.Glu312Val
NM_007299.3:c.935A>T	NP_009230.2:p.Glu312Val
NM_007300.3:c.4244A>T	NP_009231.2:p.Glu1415Val
NR_027676.1:n.4380A>T
NM_007294.4:c.4244A>T MANE Select	NP_009225.1:p.Glu1415Val
NM_007297.4:c.4103A>T	NP_009228.2:p.Glu1368Val
NM_007299.4:c.935A>T	NP_009230.2:p.Glu312Val
NM_007300.4:c.4244A>T	NP_009231.2:p.Glu1415Val
NR_027676.2:n.4421A>T