Canonical Allele Identifier: CA10592193

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1484791
• ClinVar RCV Id: RCV002008175
• dbSNP Id: rs2153989518
• MyVariant Identifiers: chr17:g.41226363G>T (hg19) ; chr17:g.43074346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074346G>T , CM000679.2:g.43074346G>T	GRCh38
NC_000017.10:g.41226363G>T , CM000679.1:g.41226363G>T	GRCh37
NC_000017.9:g.38479889G>T	NCBI36
NG_005905.2:g.143638C>A , LRG_292:g.143638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4657C>A	ENSP00000417241.2:p.Pro1553Thr
ENST00000470026.6:c.4660C>A	ENSP00000419274.2:p.Pro1554Thr
ENST00000473961.6:c.4534C>A	ENSP00000420201.2:p.Pro1512Thr
ENST00000476777.6:c.4654C>A	ENSP00000417554.2:p.Pro1552Thr
ENST00000477152.6:c.4582C>A	ENSP00000419988.2:p.Pro1528Thr
ENST00000478531.6:c.1348C>A	ENSP00000420412.2:p.Pro450Thr
ENST00000489037.2:c.4582C>A	ENSP00000420781.2:p.Pro1528Thr
ENST00000493919.6:c.1210C>A	ENSP00000418819.2:p.Pro404Thr
ENST00000494123.6:c.4660C>A	ENSP00000419103.2:p.Pro1554Thr
ENST00000497488.2:c.3772C>A	ENSP00000418986.2:p.Pro1258Thr
ENST00000618469.2:c.4660C>A	ENSP00000478114.2:p.Pro1554Thr
ENST00000634433.2:c.4537C>A	ENSP00000489431.2:p.Pro1513Thr
ENST00000644379.2:c.4726C>A	ENSP00000496570.2:p.Pro1576Thr
ENST00000644555.2:c.1210C>A	ENSP00000494614.2:p.Pro404Thr
ENST00000652672.2:c.4519C>A	ENSP00000498906.2:p.Pro1507Thr
ENST00000484087.6:c.1222C>A	ENSP00000419481.2:p.Pro408Thr
ENST00000700182.1:c.1267C>A	ENSP00000514849.1:p.Pro423Thr
ENST00000357654.9:c.4660C>A MANE Select	ENSP00000350283.3:p.Pro1554Thr
ENST00000471181.7:c.4723C>A	ENSP00000418960.2:p.Pro1575Thr
ENST00000644379.1:c.1047C>A
ENST00000352993.7:c.1234C>A	ENSP00000312236.5:p.Pro412Thr
ENST00000357654.7:c.4660C>A	ENSP00000350283.3:p.Pro1554Thr
ENST00000461221.5:c.*4443C>A	ENSP00000418548.1:n.*4443C>A
ENST00000468300.5:c.1348C>A	ENSP00000417148.1:p.Pro450Thr
ENST00000471181.6:c.4723C>A	ENSP00000418960.2:p.Pro1575Thr
ENST00000478531.5:c.1348C>A	ENSP00000420412.1:p.Pro450Thr
ENST00000484087.5:c.973C>A	ENSP00000419481.1:p.Pro325Thr
ENST00000491747.6:c.1348C>A	ENSP00000420705.2:p.Pro450Thr
ENST00000493795.5:c.4519C>A	ENSP00000418775.1:p.Pro1507Thr
ENST00000493919.5:c.1210C>A	ENSP00000418819.1:p.Pro404Thr
ENST00000586385.5:c.5-10395C>A	ENSP00000465818.1:n.5-10395C>A
ENST00000591534.5:c.133C>A	ENSP00000467329.1:p.Pro45Thr
ENST00000591849.5:c.-98-24156C>A	ENSP00000465347.1:n.-98-24156C>A
NM_007294.3:c.4660C>A , LRG_292t1:c.4660C>A	NP_009225.1:p.Pro1554Thr
NM_007297.3:c.4519C>A	NP_009228.2:p.Pro1507Thr
NM_007298.3:c.1348C>A	NP_009229.2:p.Pro450Thr
NM_007299.3:c.1348C>A	NP_009230.2:p.Pro450Thr
NM_007300.3:c.4723C>A	NP_009231.2:p.Pro1575Thr
NR_027676.1:n.4796C>A
NM_007294.4:c.4660C>A MANE Select	NP_009225.1:p.Pro1554Thr
NM_007297.4:c.4519C>A	NP_009228.2:p.Pro1507Thr
NM_007299.4:c.1348C>A	NP_009230.2:p.Pro450Thr
NM_007300.4:c.4723C>A	NP_009231.2:p.Pro1575Thr
NR_027676.2:n.4837C>A