Canonical Allele Identifier: CA500231895

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2086646
• ClinVar RCV Id: RCV003007587
• dbSNP Id: rs2153896790
• MyVariant Identifiers: chr17:g.41223236T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071219T>C , CM000679.2:g.43071219T>C	GRCh38
NC_000017.10:g.41223236T>C , CM000679.1:g.41223236T>C	GRCh37
NC_000017.9:g.38476762T>C	NCBI36
NG_005905.2:g.146765A>G , LRG_292:g.146765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4692A>G	ENSP00000417241.2:p.Glu1564=
ENST00000470026.6:c.4695A>G	ENSP00000419274.2:p.Glu1565=
ENST00000473961.6:c.4569A>G	ENSP00000420201.2:p.Glu1523=
ENST00000476777.6:c.4689A>G	ENSP00000417554.2:p.Glu1563=
ENST00000477152.6:c.4617A>G	ENSP00000419988.2:p.Glu1539=
ENST00000478531.6:c.1383A>G	ENSP00000420412.2:p.Glu461=
ENST00000489037.2:c.4617A>G	ENSP00000420781.2:p.Glu1539=
ENST00000493919.6:c.1245A>G	ENSP00000418819.2:p.Glu415=
ENST00000494123.6:c.4695A>G	ENSP00000419103.2:p.Glu1565=
ENST00000497488.2:c.3807A>G	ENSP00000418986.2:p.Glu1269=
ENST00000618469.2:c.4695A>G	ENSP00000478114.2:p.Glu1565=
ENST00000634433.2:c.4572A>G	ENSP00000489431.2:p.Glu1524=
ENST00000644379.2:c.4761A>G	ENSP00000496570.2:p.Glu1587=
ENST00000644555.2:c.1245A>G	ENSP00000494614.2:p.Glu415=
ENST00000652672.2:c.4554A>G	ENSP00000498906.2:p.Glu1518=
ENST00000484087.6:c.1257A>G	ENSP00000419481.2:p.Glu419=
ENST00000700182.1:c.1302A>G	ENSP00000514849.1:p.Glu434=
ENST00000357654.9:c.4695A>G MANE Select	ENSP00000350283.3:p.Glu1565=
ENST00000471181.7:c.4758A>G	ENSP00000418960.2:p.Glu1586=
ENST00000644379.1:c.1082A>G
ENST00000352993.7:c.1269A>G	ENSP00000312236.5:p.Glu423=
ENST00000357654.7:c.4695A>G	ENSP00000350283.3:p.Glu1565=
ENST00000461221.5:c.*4478A>G	ENSP00000418548.1:n.*4478A>G
ENST00000468300.5:c.1383A>G	ENSP00000417148.1:p.Glu461=
ENST00000471181.6:c.4758A>G	ENSP00000418960.2:p.Glu1586=
ENST00000478531.5:c.1383A>G	ENSP00000420412.1:p.Glu461=
ENST00000484087.5:c.1008A>G	ENSP00000419481.1:p.Glu336=
ENST00000491747.6:c.1383A>G	ENSP00000420705.2:p.Glu461=
ENST00000493795.5:c.4554A>G	ENSP00000418775.1:p.Glu1518=
ENST00000493919.5:c.1245A>G	ENSP00000418819.1:p.Glu415=
ENST00000586385.5:c.5-7268A>G	ENSP00000465818.1:n.5-7268A>G
ENST00000591534.5:c.168A>G	ENSP00000467329.1:p.Glu56=
ENST00000591849.5:c.-98-21029A>G	ENSP00000465347.1:n.-98-21029A>G
NM_007294.3:c.4695A>G , LRG_292t1:c.4695A>G	NP_009225.1:p.Glu1565=
NM_007297.3:c.4554A>G	NP_009228.2:p.Glu1518=
NM_007298.3:c.1383A>G	NP_009229.2:p.Glu461=
NM_007299.3:c.1383A>G	NP_009230.2:p.Glu461=
NM_007300.3:c.4758A>G	NP_009231.2:p.Glu1586=
NR_027676.1:n.4831A>G
NM_007294.4:c.4695A>G MANE Select	NP_009225.1:p.Glu1565=
NM_007297.4:c.4554A>G	NP_009228.2:p.Glu1518=
NM_007299.4:c.1383A>G	NP_009230.2:p.Glu461=
NM_007300.4:c.4758A>G	NP_009231.2:p.Glu1586=
NR_027676.2:n.4872A>G