Canonical Allele Identifier: CA10592240

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41226388G>T (hg19) ; chr17:g.43074371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074371G>T , CM000679.2:g.43074371G>T	GRCh38
NC_000017.10:g.41226388G>T , CM000679.1:g.41226388G>T	GRCh37
NC_000017.9:g.38479914G>T	NCBI36
NG_005905.2:g.143613C>A , LRG_292:g.143613C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4632C>A	ENSP00000417241.2:p.His1544Gln
ENST00000470026.6:c.4635C>A	ENSP00000419274.2:p.His1545Gln
ENST00000473961.6:c.4509C>A	ENSP00000420201.2:p.His1503Gln
ENST00000476777.6:c.4629C>A	ENSP00000417554.2:p.His1543Gln
ENST00000477152.6:c.4557C>A	ENSP00000419988.2:p.His1519Gln
ENST00000478531.6:c.1323C>A	ENSP00000420412.2:p.His441Gln
ENST00000489037.2:c.4557C>A	ENSP00000420781.2:p.His1519Gln
ENST00000493919.6:c.1185C>A	ENSP00000418819.2:p.His395Gln
ENST00000494123.6:c.4635C>A	ENSP00000419103.2:p.His1545Gln
ENST00000497488.2:c.3747C>A	ENSP00000418986.2:p.His1249Gln
ENST00000618469.2:c.4635C>A	ENSP00000478114.2:p.His1545Gln
ENST00000634433.2:c.4512C>A	ENSP00000489431.2:p.His1504Gln
ENST00000644379.2:c.4701C>A	ENSP00000496570.2:p.His1567Gln
ENST00000644555.2:c.1185C>A	ENSP00000494614.2:p.His395Gln
ENST00000652672.2:c.4494C>A	ENSP00000498906.2:p.His1498Gln
ENST00000484087.6:c.1197C>A	ENSP00000419481.2:p.His399Gln
ENST00000700182.1:c.1242C>A	ENSP00000514849.1:p.His414Gln
ENST00000357654.9:c.4635C>A MANE Select	ENSP00000350283.3:p.His1545Gln
ENST00000471181.7:c.4698C>A	ENSP00000418960.2:p.His1566Gln
ENST00000644379.1:c.1022C>A
ENST00000352993.7:c.1209C>A	ENSP00000312236.5:p.His403Gln
ENST00000357654.7:c.4635C>A	ENSP00000350283.3:p.His1545Gln
ENST00000461221.5:c.*4418C>A	ENSP00000418548.1:n.*4418C>A
ENST00000468300.5:c.1323C>A	ENSP00000417148.1:p.His441Gln
ENST00000471181.6:c.4698C>A	ENSP00000418960.2:p.His1566Gln
ENST00000478531.5:c.1323C>A	ENSP00000420412.1:p.His441Gln
ENST00000484087.5:c.948C>A	ENSP00000419481.1:p.His316Gln
ENST00000491747.6:c.1323C>A	ENSP00000420705.2:p.His441Gln
ENST00000493795.5:c.4494C>A	ENSP00000418775.1:p.His1498Gln
ENST00000493919.5:c.1185C>A	ENSP00000418819.1:p.His395Gln
ENST00000586385.5:c.5-10420C>A	ENSP00000465818.1:n.5-10420C>A
ENST00000591534.5:c.108C>A	ENSP00000467329.1:p.His36Gln
ENST00000591849.5:c.-98-24181C>A	ENSP00000465347.1:n.-98-24181C>A
NM_007294.3:c.4635C>A , LRG_292t1:c.4635C>A	NP_009225.1:p.His1545Gln
NM_007297.3:c.4494C>A	NP_009228.2:p.His1498Gln
NM_007298.3:c.1323C>A	NP_009229.2:p.His441Gln
NM_007299.3:c.1323C>A	NP_009230.2:p.His441Gln
NM_007300.3:c.4698C>A	NP_009231.2:p.His1566Gln
NR_027676.1:n.4771C>A
NM_007294.4:c.4635C>A MANE Select	NP_009225.1:p.His1545Gln
NM_007297.4:c.4494C>A	NP_009228.2:p.His1498Gln
NM_007299.4:c.1323C>A	NP_009230.2:p.His441Gln
NM_007300.4:c.4698C>A	NP_009231.2:p.His1566Gln
NR_027676.2:n.4812C>A