Canonical Allele Identifier: CA10600566

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 489737
• ClinVar RCV Id: RCV000580159 ; RCV000985445 ; RCV001320781
• dbSNP Id: rs1555593177
• gnomAD v4: 17-43094773-G-A
• MyVariant Identifiers: chr17:g.41246790G>A (hg19) ; chr17:g.43094773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094773G>A , CM000679.2:g.43094773G>A	GRCh38
NC_000017.10:g.41246790G>A , CM000679.1:g.41246790G>A	GRCh37
NC_000017.9:g.38500316G>A	NCBI36
NG_005905.2:g.123211C>T , LRG_292:g.123211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.822C>T
ENST00000461574.2:c.758C>T	ENSP00000417241.2:p.Ala253Val
ENST00000470026.6:c.758C>T	ENSP00000419274.2:p.Ala253Val
ENST00000473961.6:c.632C>T	ENSP00000420201.2:p.Ala211Val
ENST00000476777.6:c.755C>T	ENSP00000417554.2:p.Ala252Val
ENST00000477152.6:c.680C>T	ENSP00000419988.2:p.Ala227Val
ENST00000478531.6:c.755C>T	ENSP00000420412.2:p.Ala252Val
ENST00000489037.2:c.680C>T	ENSP00000420781.2:p.Ala227Val
ENST00000493919.6:c.617C>T	ENSP00000418819.2:p.Ala206Val
ENST00000494123.6:c.758C>T	ENSP00000419103.2:p.Ala253Val
ENST00000497488.2:c.-131C>T	ENSP00000418986.2:n.-131C>T
ENST00000618469.2:c.758C>T	ENSP00000478114.2:p.Ala253Val
ENST00000634433.2:c.635C>T	ENSP00000489431.2:p.Ala212Val
ENST00000644379.2:c.758C>T	ENSP00000496570.2:p.Ala253Val
ENST00000644555.2:c.617C>T	ENSP00000494614.2:p.Ala206Val
ENST00000652672.2:c.617C>T	ENSP00000498906.2:p.Ala206Val
ENST00000484087.6:c.635C>T	ENSP00000419481.2:p.Ala212Val
ENST00000700182.1:c.677C>T	ENSP00000514849.1:p.Ala226Val
ENST00000700183.1:c.*766C>T	ENSP00000514850.1:n.*766C>T
ENST00000357654.9:c.758C>T MANE Select	ENSP00000350283.3:p.Ala253Val
ENST00000471181.7:c.758C>T	ENSP00000418960.2:p.Ala253Val
ENST00000642945.1:c.*632C>T	ENSP00000495897.1:n.*632C>T
ENST00000652672.1:c.617C>T	ENSP00000498906.1:p.Ala206Val
ENST00000352993.7:c.670+1073C>T	ENSP00000312236.5:n.670+1073C>T
ENST00000354071.7:c.758C>T	ENSP00000326002.7:p.Ala253Val
ENST00000357654.7:c.758C>T	ENSP00000350283.3:p.Ala253Val
ENST00000412061.3:c.109C>T
ENST00000461221.5:c.*541C>T	ENSP00000418548.1:n.*541C>T
ENST00000468300.5:c.758C>T	ENSP00000417148.1:p.Ala253Val
ENST00000470026.5:c.758C>T	ENSP00000419274.1:p.Ala253Val
ENST00000471181.6:c.758C>T	ENSP00000418960.2:p.Ala253Val
ENST00000473961.5:c.355C>T
ENST00000477152.5:c.680C>T	ENSP00000419988.1:p.Ala227Val
ENST00000478531.5:c.755C>T	ENSP00000420412.1:p.Ala252Val
ENST00000484087.5:c.380C>T	ENSP00000419481.1:p.Ala127Val
ENST00000487825.5:c.383C>T	ENSP00000418212.1:p.Ala128Val
ENST00000491747.6:c.758C>T	ENSP00000420705.2:p.Ala253Val
ENST00000492859.5:c.*694C>T	ENSP00000420253.1:n.*694C>T
ENST00000493795.5:c.617C>T	ENSP00000418775.1:p.Ala206Val
ENST00000493919.5:c.617C>T	ENSP00000418819.1:p.Ala206Val
ENST00000494123.5:c.758C>T	ENSP00000419103.1:p.Ala253Val
ENST00000497488.1:c.-131C>T	ENSP00000418986.1:n.-131C>T
ENST00000586385.5:c.4+30409C>T	ENSP00000465818.1:n.4+30409C>T
ENST00000591534.5:c.-43-20252C>T	ENSP00000467329.1:n.-43-20252C>T
ENST00000591849.5:c.-99+30498C>T	ENSP00000465347.1:n.-99+30498C>T
ENST00000634433.1:c.635C>T	ENSP00000489431.1:p.Ala212Val
NM_007294.3:c.758C>T , LRG_292t1:c.758C>T	NP_009225.1:p.Ala253Val
NM_007297.3:c.617C>T	NP_009228.2:p.Ala206Val
NM_007298.3:c.758C>T	NP_009229.2:p.Ala253Val
NM_007299.3:c.758C>T	NP_009230.2:p.Ala253Val
NM_007300.3:c.758C>T	NP_009231.2:p.Ala253Val
NR_027676.1:n.894C>T
NM_007294.4:c.758C>T MANE Select	NP_009225.1:p.Ala253Val
NM_007297.4:c.617C>T	NP_009228.2:p.Ala206Val
NM_007299.4:c.758C>T	NP_009230.2:p.Ala253Val
NM_007300.4:c.758C>T	NP_009231.2:p.Ala253Val
NR_027676.2:n.935C>T