Canonical Allele Identifier: CA003393

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 96944
• ClinVar RCV Id: RCV000083065 ; RCV001190129 ; RCV001222121 ; RCV001567559
• dbSNP Id: rs80357074
• MyVariant Identifiers: chr17:g.41209092C>T (hg19) ; chr17:g.43057075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057075C>T , CM000679.2:g.43057075C>T	GRCh38
NC_000017.10:g.41209092C>T , CM000679.1:g.41209092C>T	GRCh37
NC_000017.9:g.38462618C>T	NCBI36
NG_005905.2:g.160909G>A , LRG_292:g.160909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5251G>A	ENSP00000417241.2:p.Ala1751Thr
ENST00000470026.6:c.5254G>A	ENSP00000419274.2:p.Ala1752Thr
ENST00000473961.6:c.5128G>A	ENSP00000420201.2:p.Ala1710Thr
ENST00000476777.6:c.5248G>A	ENSP00000417554.2:p.Ala1750Thr
ENST00000477152.6:c.5176G>A	ENSP00000419988.2:p.Ala1726Thr
ENST00000478531.6:c.1942G>A	ENSP00000420412.2:p.Ala648Thr
ENST00000489037.2:c.5176G>A	ENSP00000420781.2:p.Ala1726Thr
ENST00000493919.6:c.1804G>A	ENSP00000418819.2:p.Ala602Thr
ENST00000494123.6:c.5254G>A	ENSP00000419103.2:p.Ala1752Thr
ENST00000497488.2:c.4366G>A	ENSP00000418986.2:p.Ala1456Thr
ENST00000618469.2:c.5254G>A	ENSP00000478114.2:p.Ala1752Thr
ENST00000634433.2:c.5131G>A	ENSP00000489431.2:p.Ala1711Thr
ENST00000644379.2:c.5320G>A	ENSP00000496570.2:p.Ala1774Thr
ENST00000644555.2:c.1804G>A	ENSP00000494614.2:p.Ala602Thr
ENST00000652672.2:c.5113G>A	ENSP00000498906.2:p.Ala1705Thr
ENST00000484087.6:c.1816G>A	ENSP00000419481.2:p.Ala606Thr
ENST00000357654.9:c.5254G>A MANE Select	ENSP00000350283.3:p.Ala1752Thr
ENST00000471181.7:c.5317G>A	ENSP00000418960.2:p.Ala1773Thr
ENST00000644379.1:c.1641G>A
ENST00000352993.7:c.1828G>A	ENSP00000312236.5:p.Ala610Thr
ENST00000357654.7:c.5254G>A	ENSP00000350283.3:p.Ala1752Thr
ENST00000461221.5:c.*5037G>A	ENSP00000418548.1:n.*5037G>A
ENST00000468300.5:c.1942G>A	ENSP00000417148.1:p.Ala648Thr
ENST00000471181.6:c.5317G>A	ENSP00000418960.2:p.Ala1773Thr
ENST00000491747.6:c.1942G>A	ENSP00000420705.2:p.Ala648Thr
ENST00000493795.5:c.5113G>A	ENSP00000418775.1:p.Ala1705Thr
ENST00000586385.5:c.184G>A	ENSP00000465818.1:p.Ala62Thr
ENST00000591534.5:c.727G>A	ENSP00000467329.1:p.Ala243Thr
ENST00000591849.5:c.-98-6885G>A	ENSP00000465347.1:n.-98-6885G>A
NM_007294.3:c.5254G>A , LRG_292t1:c.5254G>A	NP_009225.1:p.Ala1752Thr
NM_007297.3:c.5113G>A	NP_009228.2:p.Ala1705Thr
NM_007298.3:c.1942G>A	NP_009229.2:p.Ala648Thr
NM_007299.3:c.1942G>A	NP_009230.2:p.Ala648Thr
NM_007300.3:c.5317G>A	NP_009231.2:p.Ala1773Thr
NR_027676.1:n.5390G>A
NM_007294.4:c.5254G>A MANE Select	NP_009225.1:p.Ala1752Thr
NM_007297.4:c.5113G>A	NP_009228.2:p.Ala1705Thr
NM_007299.4:c.1942G>A	NP_009230.2:p.Ala648Thr
NM_007300.4:c.5317G>A	NP_009231.2:p.Ala1773Thr
NR_027676.2:n.5431G>A