Canonical Allele Identifier: CA10591344

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867632
• ClinVar RCV Id: RCV001076367
• dbSNP Id: rs1597820426
• MyVariant Identifiers: chr17:g.41215952A>T (hg19) ; chr17:g.43063935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063935A>T , CM000679.2:g.43063935A>T	GRCh38
NC_000017.10:g.41215952A>T , CM000679.1:g.41215952A>T	GRCh37
NC_000017.9:g.38469478A>T	NCBI36
NG_005905.2:g.154049T>A , LRG_292:g.154049T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5088T>A	ENSP00000417241.2:p.Cys1696Ter
ENST00000470026.6:c.5091T>A	ENSP00000419274.2:p.Cys1697Ter
ENST00000473961.6:c.4965T>A	ENSP00000420201.2:p.Cys1655Ter
ENST00000476777.6:c.5085T>A	ENSP00000417554.2:p.Cys1695Ter
ENST00000477152.6:c.5013T>A	ENSP00000419988.2:p.Cys1671Ter
ENST00000478531.6:c.1779T>A	ENSP00000420412.2:p.Cys593Ter
ENST00000489037.2:c.5013T>A	ENSP00000420781.2:p.Cys1671Ter
ENST00000493919.6:c.1641T>A	ENSP00000418819.2:p.Cys547Ter
ENST00000494123.6:c.5091T>A	ENSP00000419103.2:p.Cys1697Ter
ENST00000497488.2:c.4203T>A	ENSP00000418986.2:p.Cys1401Ter
ENST00000618469.2:c.5091T>A	ENSP00000478114.2:p.Cys1697Ter
ENST00000634433.2:c.4968T>A	ENSP00000489431.2:p.Cys1656Ter
ENST00000644379.2:c.5157T>A	ENSP00000496570.2:p.Cys1719Ter
ENST00000644555.2:c.1641T>A	ENSP00000494614.2:p.Cys547Ter
ENST00000652672.2:c.4950T>A	ENSP00000498906.2:p.Cys1650Ter
ENST00000484087.6:c.1653T>A	ENSP00000419481.2:p.Cys551Ter
ENST00000357654.9:c.5091T>A MANE Select	ENSP00000350283.3:p.Cys1697Ter
ENST00000471181.7:c.5154T>A	ENSP00000418960.2:p.Cys1718Ter
ENST00000644379.1:c.1478T>A
ENST00000352993.7:c.1665T>A	ENSP00000312236.5:p.Cys555Ter
ENST00000357654.7:c.5091T>A	ENSP00000350283.3:p.Cys1697Ter
ENST00000461221.5:c.*4874T>A	ENSP00000418548.1:n.*4874T>A
ENST00000468300.5:c.1779T>A	ENSP00000417148.1:p.Cys593Ter
ENST00000471181.6:c.5154T>A	ENSP00000418960.2:p.Cys1718Ter
ENST00000478531.5:c.1779T>A	ENSP00000420412.1:p.Cys593Ter
ENST00000484087.5:c.1404T>A	ENSP00000419481.1:p.Cys468Ter
ENST00000491747.6:c.1779T>A	ENSP00000420705.2:p.Cys593Ter
ENST00000493795.5:c.4950T>A	ENSP00000418775.1:p.Cys1650Ter
ENST00000493919.5:c.1641T>A	ENSP00000418819.1:p.Cys547Ter
ENST00000586385.5:c.21T>A	ENSP00000465818.1:p.Cys7Ter
ENST00000591534.5:c.564T>A	ENSP00000467329.1:p.Cys188Ter
ENST00000591849.5:c.-98-13745T>A	ENSP00000465347.1:n.-98-13745T>A
NM_007294.3:c.5091T>A , LRG_292t1:c.5091T>A	NP_009225.1:p.Cys1697Ter
NM_007297.3:c.4950T>A	NP_009228.2:p.Cys1650Ter
NM_007298.3:c.1779T>A	NP_009229.2:p.Cys593Ter
NM_007299.3:c.1779T>A	NP_009230.2:p.Cys593Ter
NM_007300.3:c.5154T>A	NP_009231.2:p.Cys1718Ter
NR_027676.1:n.5227T>A
NM_007294.4:c.5091T>A MANE Select	NP_009225.1:p.Cys1697Ter
NM_007297.4:c.4950T>A	NP_009228.2:p.Cys1650Ter
NM_007299.4:c.1779T>A	NP_009230.2:p.Cys593Ter
NM_007300.4:c.5154T>A	NP_009231.2:p.Cys1718Ter
NR_027676.2:n.5268T>A