Canonical Allele Identifier: CA10593273

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234553G>T (hg19) ; chr17:g.43082536G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082536G>T , CM000679.2:g.43082536G>T	GRCh38
NC_000017.10:g.41234553G>T , CM000679.1:g.41234553G>T	GRCh37
NC_000017.9:g.38488079G>T	NCBI36
NG_005905.2:g.135448C>A , LRG_292:g.135448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4225C>A	ENSP00000417241.2:p.Gln1409Lys
ENST00000470026.6:c.4225C>A	ENSP00000419274.2:p.Gln1409Lys
ENST00000473961.6:c.4099C>A	ENSP00000420201.2:p.Gln1367Lys
ENST00000476777.6:c.4219C>A	ENSP00000417554.2:p.Gln1407Lys
ENST00000477152.6:c.4147C>A	ENSP00000419988.2:p.Gln1383Lys
ENST00000478531.6:c.913C>A	ENSP00000420412.2:p.Gln305Lys
ENST00000489037.2:c.4147C>A	ENSP00000420781.2:p.Gln1383Lys
ENST00000493919.6:c.775C>A	ENSP00000418819.2:p.Gln259Lys
ENST00000494123.6:c.4225C>A	ENSP00000419103.2:p.Gln1409Lys
ENST00000497488.2:c.3337C>A	ENSP00000418986.2:p.Gln1113Lys
ENST00000618469.2:c.4225C>A	ENSP00000478114.2:p.Gln1409Lys
ENST00000634433.2:c.4102C>A	ENSP00000489431.2:p.Gln1368Lys
ENST00000644379.2:c.4225C>A	ENSP00000496570.2:p.Gln1409Lys
ENST00000644555.2:c.775C>A	ENSP00000494614.2:p.Gln259Lys
ENST00000652672.2:c.4084C>A	ENSP00000498906.2:p.Gln1362Lys
ENST00000484087.6:c.790C>A	ENSP00000419481.2:p.Gln264Lys
ENST00000700182.1:c.835C>A	ENSP00000514849.1:p.Gln279Lys
ENST00000357654.9:c.4225C>A MANE Select	ENSP00000350283.3:p.Gln1409Lys
ENST00000471181.7:c.4225C>A	ENSP00000418960.2:p.Gln1409Lys
ENST00000644379.1:c.546C>A
ENST00000352993.7:c.799C>A	ENSP00000312236.5:p.Gln267Lys
ENST00000357654.7:c.4225C>A	ENSP00000350283.3:p.Gln1409Lys
ENST00000461221.5:c.*4008C>A	ENSP00000418548.1:n.*4008C>A
ENST00000461574.1:c.519C>A
ENST00000468300.5:c.916C>A	ENSP00000417148.1:p.Gln306Lys
ENST00000471181.6:c.4225C>A	ENSP00000418960.2:p.Gln1409Lys
ENST00000478531.5:c.913C>A	ENSP00000420412.1:p.Gln305Lys
ENST00000484087.5:c.538C>A	ENSP00000419481.1:p.Gln180Lys
ENST00000487825.5:c.541C>A	ENSP00000418212.1:p.Gln181Lys
ENST00000491747.6:c.916C>A	ENSP00000420705.2:p.Gln306Lys
ENST00000493795.5:c.4084C>A	ENSP00000418775.1:p.Gln1362Lys
ENST00000493919.5:c.775C>A	ENSP00000418819.1:p.Gln259Lys
ENST00000586385.5:c.5-18585C>A	ENSP00000465818.1:n.5-18585C>A
ENST00000591534.5:c.-43-8015C>A	ENSP00000467329.1:n.-43-8015C>A
ENST00000591849.5:c.-98-32346C>A	ENSP00000465347.1:n.-98-32346C>A
ENST00000621897.1:n.119C>A
NM_007294.3:c.4225C>A , LRG_292t1:c.4225C>A	NP_009225.1:p.Gln1409Lys
NM_007297.3:c.4084C>A	NP_009228.2:p.Gln1362Lys
NM_007298.3:c.916C>A	NP_009229.2:p.Gln306Lys
NM_007299.3:c.916C>A	NP_009230.2:p.Gln306Lys
NM_007300.3:c.4225C>A	NP_009231.2:p.Gln1409Lys
NR_027676.1:n.4361C>A
NM_007294.4:c.4225C>A MANE Select	NP_009225.1:p.Gln1409Lys
NM_007297.4:c.4084C>A	NP_009228.2:p.Gln1362Lys
NM_007299.4:c.916C>A	NP_009230.2:p.Gln306Lys
NM_007300.4:c.4225C>A	NP_009231.2:p.Gln1409Lys
NR_027676.2:n.4402C>A