Canonical Allele Identifier: CA10589677

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266461
• ClinVar RCV Id: RCV000256907 ; RCV000536293 ; RCV000570823 ; RCV000759536
• dbSNP Id: rs886040218
• COSMIC: COSM6362004 ; COSM6362005
• MyVariant Identifiers: chr17:g.41234553G>A (hg19) ; chr17:g.43082536G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4225C>T	ENSP00000417241.2:p.Gln1409Ter
ENST00000470026.6:c.4225C>T	ENSP00000419274.2:p.Gln1409Ter
ENST00000473961.6:c.4099C>T	ENSP00000420201.2:p.Gln1367Ter
ENST00000476777.6:c.4219C>T	ENSP00000417554.2:p.Gln1407Ter
ENST00000477152.6:c.4147C>T	ENSP00000419988.2:p.Gln1383Ter
ENST00000478531.6:c.913C>T	ENSP00000420412.2:p.Gln305Ter
ENST00000489037.2:c.4147C>T	ENSP00000420781.2:p.Gln1383Ter
ENST00000493919.6:c.775C>T	ENSP00000418819.2:p.Gln259Ter
ENST00000494123.6:c.4225C>T	ENSP00000419103.2:p.Gln1409Ter
ENST00000497488.2:c.3337C>T	ENSP00000418986.2:p.Gln1113Ter
ENST00000618469.2:c.4225C>T	ENSP00000478114.2:p.Gln1409Ter
ENST00000634433.2:c.4102C>T	ENSP00000489431.2:p.Gln1368Ter
ENST00000644379.2:c.4225C>T	ENSP00000496570.2:p.Gln1409Ter
ENST00000644555.2:c.775C>T	ENSP00000494614.2:p.Gln259Ter
ENST00000652672.2:c.4084C>T	ENSP00000498906.2:p.Gln1362Ter
ENST00000484087.6:c.790C>T	ENSP00000419481.2:p.Gln264Ter
ENST00000700182.1:c.835C>T	ENSP00000514849.1:p.Gln279Ter
ENST00000357654.9:c.4225C>T MANE Select	ENSP00000350283.3:p.Gln1409Ter
ENST00000471181.7:c.4225C>T	ENSP00000418960.2:p.Gln1409Ter
ENST00000644379.1:c.546C>T
ENST00000352993.7:c.799C>T	ENSP00000312236.5:p.Gln267Ter
ENST00000357654.7:c.4225C>T	ENSP00000350283.3:p.Gln1409Ter
ENST00000461221.5:c.*4008C>T	ENSP00000418548.1:n.*4008C>T
ENST00000461574.1:c.519C>T
ENST00000468300.5:c.916C>T	ENSP00000417148.1:p.Gln306Ter
ENST00000471181.6:c.4225C>T	ENSP00000418960.2:p.Gln1409Ter
ENST00000478531.5:c.913C>T	ENSP00000420412.1:p.Gln305Ter
ENST00000484087.5:c.538C>T	ENSP00000419481.1:p.Gln180Ter
ENST00000487825.5:c.541C>T	ENSP00000418212.1:p.Gln181Ter
ENST00000491747.6:c.916C>T	ENSP00000420705.2:p.Gln306Ter
ENST00000493795.5:c.4084C>T	ENSP00000418775.1:p.Gln1362Ter
ENST00000493919.5:c.775C>T	ENSP00000418819.1:p.Gln259Ter
ENST00000586385.5:c.5-18585C>T	ENSP00000465818.1:n.5-18585C>T
ENST00000591534.5:c.-43-8015C>T	ENSP00000467329.1:n.-43-8015C>T
ENST00000591849.5:c.-98-32346C>T	ENSP00000465347.1:n.-98-32346C>T
ENST00000621897.1:n.119C>T
NM_007294.3:c.4225C>T , LRG_292t1:c.4225C>T	NP_009225.1:p.Gln1409Ter
NM_007297.3:c.4084C>T	NP_009228.2:p.Gln1362Ter
NM_007298.3:c.916C>T	NP_009229.2:p.Gln306Ter
NM_007299.3:c.916C>T	NP_009230.2:p.Gln306Ter
NM_007300.3:c.4225C>T	NP_009231.2:p.Gln1409Ter
NR_027676.1:n.4361C>T
NM_007294.4:c.4225C>T MANE Select	NP_009225.1:p.Gln1409Ter
NM_007297.4:c.4084C>T	NP_009228.2:p.Gln1362Ter
NM_007299.4:c.916C>T	NP_009230.2:p.Gln306Ter
NM_007300.4:c.4225C>T	NP_009231.2:p.Gln1409Ter
NR_027676.2:n.4402C>T