Canonical Allele Identifier: CA500142888

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 482953
• ClinVar RCV Id: RCV001445916
• dbSNP Id: rs1426388214
• gnomAD v2: 17-41197740-C-T
• gnomAD v4: 17-43045723-C-T
• MyVariant Identifiers: chr17:g.41197740C>T (hg19) ; chr17:g.43045723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045723C>T , CM000679.2:g.43045723C>T	GRCh38
NC_000017.10:g.41197740C>T , CM000679.1:g.41197740C>T	GRCh37
NC_000017.9:g.38451266C>T	NCBI36
NG_005905.2:g.172261G>A , LRG_292:g.172261G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5544G>A	ENSP00000417241.2:p.Glu1848=
ENST00000470026.6:c.5547G>A	ENSP00000419274.2:p.Glu1849=
ENST00000473961.6:c.5421G>A	ENSP00000420201.2:p.Glu1807=
ENST00000476777.6:c.5541G>A	ENSP00000417554.2:p.Glu1847=
ENST00000477152.6:c.5469G>A	ENSP00000419988.2:p.Glu1823=
ENST00000478531.6:c.2235G>A	ENSP00000420412.2:p.Glu745=
ENST00000489037.2:c.5469G>A	ENSP00000420781.2:p.Glu1823=
ENST00000493919.6:c.2097G>A	ENSP00000418819.2:p.Glu699=
ENST00000494123.6:c.5547G>A	ENSP00000419103.2:p.Glu1849=
ENST00000497488.2:c.4659G>A	ENSP00000418986.2:p.Glu1553=
ENST00000618469.2:c.5547G>A	ENSP00000478114.2:p.Glu1849=
ENST00000634433.2:c.5424G>A	ENSP00000489431.2:p.Glu1808=
ENST00000644379.2:c.5613G>A	ENSP00000496570.2:p.Glu1871=
ENST00000644555.2:c.2097G>A	ENSP00000494614.2:p.Glu699=
ENST00000652672.2:c.5406G>A	ENSP00000498906.2:p.Glu1802=
ENST00000484087.6:c.2109G>A	ENSP00000419481.2:p.Glu703=
ENST00000700081.1:n.1430G>A
ENST00000700082.1:n.911G>A
ENST00000357654.9:c.5547G>A MANE Select	ENSP00000350283.3:p.Glu1849=
ENST00000471181.7:c.5610G>A	ENSP00000418960.2:p.Glu1870=
ENST00000644379.1:c.1934G>A
ENST00000352993.7:c.2121G>A	ENSP00000312236.5:p.Glu707=
ENST00000357654.7:c.5547G>A	ENSP00000350283.3:p.Glu1849=
ENST00000461221.5:c.*5330G>A	ENSP00000418548.1:n.*5330G>A
ENST00000468300.5:c.*61G>A	ENSP00000417148.1:n.*61G>A
ENST00000471181.6:c.5610G>A	ENSP00000418960.2:p.Glu1870=
ENST00000491747.6:c.2235G>A	ENSP00000420705.2:p.Glu745=
ENST00000493795.5:c.5406G>A	ENSP00000418775.1:p.Glu1802=
ENST00000586385.5:c.477G>A	ENSP00000465818.1:p.Glu159=
ENST00000591534.5:c.1020G>A	ENSP00000467329.1:p.Glu340=
ENST00000591849.5:c.246G>A	ENSP00000465347.1:p.Glu82=
NM_007294.3:c.5547G>A , LRG_292t1:c.5547G>A	NP_009225.1:p.Glu1849=
NM_007297.3:c.5406G>A	NP_009228.2:p.Glu1802=
NM_007298.3:c.2235G>A	NP_009229.2:p.Glu745=
NM_007299.3:c.*61G>A	NP_009230.2:n.*61G>A
NM_007300.3:c.5610G>A	NP_009231.2:p.Glu1870=
NR_027676.1:n.5683G>A
NM_007294.4:c.5547G>A MANE Select	NP_009225.1:p.Glu1849=
NM_007297.4:c.5406G>A	NP_009228.2:p.Glu1802=
NM_007299.4:c.*61G>A	NP_009230.2:n.*61G>A
NM_007300.4:c.5610G>A	NP_009231.2:p.Glu1870=
NR_027676.2:n.5724G>A