Canonical Allele Identifier: CA10591395

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868976
• ClinVar RCV Id: RCV001077987 ; RCV001254331
• dbSNP Id: rs2052159968
• MyVariant Identifiers: chr17:g.41219637C>A (hg19) ; chr17:g.43067620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067620C>A , CM000679.2:g.43067620C>A	GRCh38
NC_000017.10:g.41219637C>A , CM000679.1:g.41219637C>A	GRCh37
NC_000017.9:g.38473163C>A	NCBI36
NG_005905.2:g.150364G>T , LRG_292:g.150364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5059G>T	ENSP00000417241.2:p.Val1687Phe
ENST00000470026.6:c.5062G>T	ENSP00000419274.2:p.Val1688Phe
ENST00000473961.6:c.4936G>T	ENSP00000420201.2:p.Val1646Phe
ENST00000476777.6:c.5056G>T	ENSP00000417554.2:p.Val1686Phe
ENST00000477152.6:c.4984G>T	ENSP00000419988.2:p.Val1662Phe
ENST00000478531.6:c.1750G>T	ENSP00000420412.2:p.Val584Phe
ENST00000489037.2:c.4984G>T	ENSP00000420781.2:p.Val1662Phe
ENST00000493919.6:c.1612G>T	ENSP00000418819.2:p.Val538Phe
ENST00000494123.6:c.5062G>T	ENSP00000419103.2:p.Val1688Phe
ENST00000497488.2:c.4174G>T	ENSP00000418986.2:p.Val1392Phe
ENST00000618469.2:c.5062G>T	ENSP00000478114.2:p.Val1688Phe
ENST00000634433.2:c.4939G>T	ENSP00000489431.2:p.Val1647Phe
ENST00000644379.2:c.5128G>T	ENSP00000496570.2:p.Val1710Phe
ENST00000644555.2:c.1612G>T	ENSP00000494614.2:p.Val538Phe
ENST00000652672.2:c.4921G>T	ENSP00000498906.2:p.Val1641Phe
ENST00000484087.6:c.1624G>T	ENSP00000419481.2:p.Val542Phe
ENST00000357654.9:c.5062G>T MANE Select	ENSP00000350283.3:p.Val1688Phe
ENST00000471181.7:c.5125G>T	ENSP00000418960.2:p.Val1709Phe
ENST00000644379.1:c.1449G>T
ENST00000352993.7:c.1636G>T	ENSP00000312236.5:p.Val546Phe
ENST00000357654.7:c.5062G>T	ENSP00000350283.3:p.Val1688Phe
ENST00000461221.5:c.*4845G>T	ENSP00000418548.1:n.*4845G>T
ENST00000468300.5:c.1750G>T	ENSP00000417148.1:p.Val584Phe
ENST00000471181.6:c.5125G>T	ENSP00000418960.2:p.Val1709Phe
ENST00000472490.1:n.215G>T
ENST00000478531.5:c.1750G>T	ENSP00000420412.1:p.Val584Phe
ENST00000484087.5:c.1375G>T	ENSP00000419481.1:p.Val459Phe
ENST00000491747.6:c.1750G>T	ENSP00000420705.2:p.Val584Phe
ENST00000493795.5:c.4921G>T	ENSP00000418775.1:p.Val1641Phe
ENST00000493919.5:c.1612G>T	ENSP00000418819.1:p.Val538Phe
ENST00000586385.5:c.5-3669G>T	ENSP00000465818.1:n.5-3669G>T
ENST00000591534.5:c.535G>T	ENSP00000467329.1:p.Val179Phe
ENST00000591849.5:c.-98-17430G>T	ENSP00000465347.1:n.-98-17430G>T
NM_007294.3:c.5062G>T , LRG_292t1:c.5062G>T	NP_009225.1:p.Val1688Phe
NM_007297.3:c.4921G>T	NP_009228.2:p.Val1641Phe
NM_007298.3:c.1750G>T	NP_009229.2:p.Val584Phe
NM_007299.3:c.1750G>T	NP_009230.2:p.Val584Phe
NM_007300.3:c.5125G>T	NP_009231.2:p.Val1709Phe
NR_027676.1:n.5198G>T
NM_007294.4:c.5062G>T MANE Select	NP_009225.1:p.Val1688Phe
NM_007297.4:c.4921G>T	NP_009228.2:p.Val1641Phe
NM_007299.4:c.1750G>T	NP_009230.2:p.Val584Phe
NM_007300.4:c.5125G>T	NP_009231.2:p.Val1709Phe
NR_027676.2:n.5239G>T