Canonical Allele Identifier: CA10592609

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228527T>A (hg19) ; chr17:g.43076510T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076510T>A , CM000679.2:g.43076510T>A	GRCh38
NC_000017.10:g.41228527T>A , CM000679.1:g.41228527T>A	GRCh37
NC_000017.9:g.38482053T>A	NCBI36
NG_005905.2:g.141474A>T , LRG_292:g.141474A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4459A>T	ENSP00000417241.2:p.Asn1487Tyr
ENST00000470026.6:c.4462A>T	ENSP00000419274.2:p.Asn1488Tyr
ENST00000473961.6:c.4336A>T	ENSP00000420201.2:p.Asn1446Tyr
ENST00000476777.6:c.4456A>T	ENSP00000417554.2:p.Asn1486Tyr
ENST00000477152.6:c.4384A>T	ENSP00000419988.2:p.Asn1462Tyr
ENST00000478531.6:c.1150A>T	ENSP00000420412.2:p.Asn384Tyr
ENST00000489037.2:c.4384A>T	ENSP00000420781.2:p.Asn1462Tyr
ENST00000493919.6:c.1012A>T	ENSP00000418819.2:p.Asn338Tyr
ENST00000494123.6:c.4462A>T	ENSP00000419103.2:p.Asn1488Tyr
ENST00000497488.2:c.3574A>T	ENSP00000418986.2:p.Asn1192Tyr
ENST00000618469.2:c.4462A>T	ENSP00000478114.2:p.Asn1488Tyr
ENST00000634433.2:c.4339A>T	ENSP00000489431.2:p.Asn1447Tyr
ENST00000644379.2:c.4528A>T	ENSP00000496570.2:p.Asn1510Tyr
ENST00000644555.2:c.1012A>T	ENSP00000494614.2:p.Asn338Tyr
ENST00000652672.2:c.4321A>T	ENSP00000498906.2:p.Asn1441Tyr
ENST00000484087.6:c.1024A>T	ENSP00000419481.2:p.Asn342Tyr
ENST00000700182.1:c.1069A>T	ENSP00000514849.1:p.Asn357Tyr
ENST00000357654.9:c.4462A>T MANE Select	ENSP00000350283.3:p.Asn1488Tyr
ENST00000471181.7:c.4525A>T	ENSP00000418960.2:p.Asn1509Tyr
ENST00000644379.1:c.849A>T
ENST00000352993.7:c.1036A>T	ENSP00000312236.5:p.Asn346Tyr
ENST00000357654.7:c.4462A>T	ENSP00000350283.3:p.Asn1488Tyr
ENST00000461221.5:c.*4245A>T	ENSP00000418548.1:n.*4245A>T
ENST00000468300.5:c.1150A>T	ENSP00000417148.1:p.Asn384Tyr
ENST00000471181.6:c.4525A>T	ENSP00000418960.2:p.Asn1509Tyr
ENST00000478531.5:c.1150A>T	ENSP00000420412.1:p.Asn384Tyr
ENST00000484087.5:c.775A>T	ENSP00000419481.1:p.Asn259Tyr
ENST00000487825.5:c.778A>T	ENSP00000418212.1:p.Asn260Tyr
ENST00000491747.6:c.1150A>T	ENSP00000420705.2:p.Asn384Tyr
ENST00000493795.5:c.4321A>T	ENSP00000418775.1:p.Asn1441Tyr
ENST00000493919.5:c.1012A>T	ENSP00000418819.1:p.Asn338Tyr
ENST00000586385.5:c.5-12559A>T	ENSP00000465818.1:n.5-12559A>T
ENST00000591534.5:c.-43-1989A>T	ENSP00000467329.1:n.-43-1989A>T
ENST00000591849.5:c.-98-26320A>T	ENSP00000465347.1:n.-98-26320A>T
ENST00000621897.1:n.353A>T
NM_007294.3:c.4462A>T , LRG_292t1:c.4462A>T	NP_009225.1:p.Asn1488Tyr
NM_007297.3:c.4321A>T	NP_009228.2:p.Asn1441Tyr
NM_007298.3:c.1150A>T	NP_009229.2:p.Asn384Tyr
NM_007299.3:c.1150A>T	NP_009230.2:p.Asn384Tyr
NM_007300.3:c.4525A>T	NP_009231.2:p.Asn1509Tyr
NR_027676.1:n.4598A>T
NM_007294.4:c.4462A>T MANE Select	NP_009225.1:p.Asn1488Tyr
NM_007297.4:c.4321A>T	NP_009228.2:p.Asn1441Tyr
NM_007299.4:c.1150A>T	NP_009230.2:p.Asn384Tyr
NM_007300.4:c.4525A>T	NP_009231.2:p.Asn1509Tyr
NR_027676.2:n.4639A>T