Canonical Allele Identifier: CA10591755

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1520029
• ClinVar RCV Id: RCV002024875 ; RCV002479810
• dbSNP Id: rs2153824923
• MyVariant Identifiers: chr17:g.41223045T>C (hg19) ; chr17:g.43071028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071028T>C , CM000679.2:g.43071028T>C	GRCh38
NC_000017.10:g.41223045T>C , CM000679.1:g.41223045T>C	GRCh37
NC_000017.9:g.38476571T>C	NCBI36
NG_005905.2:g.146956A>G , LRG_292:g.146956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4883A>G	ENSP00000417241.2:p.Glu1628Gly
ENST00000470026.6:c.4886A>G	ENSP00000419274.2:p.Glu1629Gly
ENST00000473961.6:c.4760A>G	ENSP00000420201.2:p.Glu1587Gly
ENST00000476777.6:c.4880A>G	ENSP00000417554.2:p.Glu1627Gly
ENST00000477152.6:c.4808A>G	ENSP00000419988.2:p.Glu1603Gly
ENST00000478531.6:c.1574A>G	ENSP00000420412.2:p.Glu525Gly
ENST00000489037.2:c.4808A>G	ENSP00000420781.2:p.Glu1603Gly
ENST00000493919.6:c.1436A>G	ENSP00000418819.2:p.Glu479Gly
ENST00000494123.6:c.4886A>G	ENSP00000419103.2:p.Glu1629Gly
ENST00000497488.2:c.3998A>G	ENSP00000418986.2:p.Glu1333Gly
ENST00000618469.2:c.4886A>G	ENSP00000478114.2:p.Glu1629Gly
ENST00000634433.2:c.4763A>G	ENSP00000489431.2:p.Glu1588Gly
ENST00000644379.2:c.4952A>G	ENSP00000496570.2:p.Glu1651Gly
ENST00000644555.2:c.1436A>G	ENSP00000494614.2:p.Glu479Gly
ENST00000652672.2:c.4745A>G	ENSP00000498906.2:p.Glu1582Gly
ENST00000484087.6:c.1448A>G	ENSP00000419481.2:p.Glu483Gly
ENST00000700182.1:c.1493A>G	ENSP00000514849.1:p.Glu498Gly
ENST00000357654.9:c.4886A>G MANE Select	ENSP00000350283.3:p.Glu1629Gly
ENST00000471181.7:c.4949A>G	ENSP00000418960.2:p.Glu1650Gly
ENST00000644379.1:c.1273A>G
ENST00000352993.7:c.1460A>G	ENSP00000312236.5:p.Glu487Gly
ENST00000357654.7:c.4886A>G	ENSP00000350283.3:p.Glu1629Gly
ENST00000461221.5:c.*4669A>G	ENSP00000418548.1:n.*4669A>G
ENST00000468300.5:c.1574A>G	ENSP00000417148.1:p.Glu525Gly
ENST00000471181.6:c.4949A>G	ENSP00000418960.2:p.Glu1650Gly
ENST00000472490.1:n.39A>G
ENST00000478531.5:c.1574A>G	ENSP00000420412.1:p.Glu525Gly
ENST00000484087.5:c.1199A>G	ENSP00000419481.1:p.Glu400Gly
ENST00000491747.6:c.1574A>G	ENSP00000420705.2:p.Glu525Gly
ENST00000493795.5:c.4745A>G	ENSP00000418775.1:p.Glu1582Gly
ENST00000493919.5:c.1436A>G	ENSP00000418819.1:p.Glu479Gly
ENST00000586385.5:c.5-7077A>G	ENSP00000465818.1:n.5-7077A>G
ENST00000591534.5:c.359A>G	ENSP00000467329.1:p.Glu120Gly
ENST00000591849.5:c.-98-20838A>G	ENSP00000465347.1:n.-98-20838A>G
NM_007294.3:c.4886A>G , LRG_292t1:c.4886A>G	NP_009225.1:p.Glu1629Gly
NM_007297.3:c.4745A>G	NP_009228.2:p.Glu1582Gly
NM_007298.3:c.1574A>G	NP_009229.2:p.Glu525Gly
NM_007299.3:c.1574A>G	NP_009230.2:p.Glu525Gly
NM_007300.3:c.4949A>G	NP_009231.2:p.Glu1650Gly
NR_027676.1:n.5022A>G
NM_007294.4:c.4886A>G MANE Select	NP_009225.1:p.Glu1629Gly
NM_007297.4:c.4745A>G	NP_009228.2:p.Glu1582Gly
NM_007299.4:c.1574A>G	NP_009230.2:p.Glu525Gly
NM_007300.4:c.4949A>G	NP_009231.2:p.Glu1650Gly
NR_027676.2:n.5063A>G