Canonical Allele Identifier: CA10590228

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865001
• ClinVar RCV Id: RCV001072319
• dbSNP Id: rs2050864495
• MyVariant Identifiers: chr17:g.41197741T>A (hg19) ; chr17:g.43045724T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045724T>A , CM000679.2:g.43045724T>A	GRCh38
NC_000017.10:g.41197741T>A , CM000679.1:g.41197741T>A	GRCh37
NC_000017.9:g.38451267T>A	NCBI36
NG_005905.2:g.172260A>T , LRG_292:g.172260A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5543A>T	ENSP00000417241.2:p.Glu1848Val
ENST00000470026.6:c.5546A>T	ENSP00000419274.2:p.Glu1849Val
ENST00000473961.6:c.5420A>T	ENSP00000420201.2:p.Glu1807Val
ENST00000476777.6:c.5540A>T	ENSP00000417554.2:p.Glu1847Val
ENST00000477152.6:c.5468A>T	ENSP00000419988.2:p.Glu1823Val
ENST00000478531.6:c.2234A>T	ENSP00000420412.2:p.Glu745Val
ENST00000489037.2:c.5468A>T	ENSP00000420781.2:p.Glu1823Val
ENST00000493919.6:c.2096A>T	ENSP00000418819.2:p.Glu699Val
ENST00000494123.6:c.5546A>T	ENSP00000419103.2:p.Glu1849Val
ENST00000497488.2:c.4658A>T	ENSP00000418986.2:p.Glu1553Val
ENST00000618469.2:c.5546A>T	ENSP00000478114.2:p.Glu1849Val
ENST00000634433.2:c.5423A>T	ENSP00000489431.2:p.Glu1808Val
ENST00000644379.2:c.5612A>T	ENSP00000496570.2:p.Glu1871Val
ENST00000644555.2:c.2096A>T	ENSP00000494614.2:p.Glu699Val
ENST00000652672.2:c.5405A>T	ENSP00000498906.2:p.Glu1802Val
ENST00000484087.6:c.2108A>T	ENSP00000419481.2:p.Glu703Val
ENST00000700081.1:n.1429A>T
ENST00000700082.1:n.910A>T
ENST00000357654.9:c.5546A>T MANE Select	ENSP00000350283.3:p.Glu1849Val
ENST00000471181.7:c.5609A>T	ENSP00000418960.2:p.Glu1870Val
ENST00000644379.1:c.1933A>T
ENST00000352993.7:c.2120A>T	ENSP00000312236.5:p.Glu707Val
ENST00000357654.7:c.5546A>T	ENSP00000350283.3:p.Glu1849Val
ENST00000461221.5:c.*5329A>T	ENSP00000418548.1:n.*5329A>T
ENST00000468300.5:c.*60A>T	ENSP00000417148.1:n.*60A>T
ENST00000471181.6:c.5609A>T	ENSP00000418960.2:p.Glu1870Val
ENST00000491747.6:c.2234A>T	ENSP00000420705.2:p.Glu745Val
ENST00000493795.5:c.5405A>T	ENSP00000418775.1:p.Glu1802Val
ENST00000586385.5:c.476A>T	ENSP00000465818.1:p.Glu159Val
ENST00000591534.5:c.1019A>T	ENSP00000467329.1:p.Glu340Val
ENST00000591849.5:c.245A>T	ENSP00000465347.1:p.Glu82Val
NM_007294.3:c.5546A>T , LRG_292t1:c.5546A>T	NP_009225.1:p.Glu1849Val
NM_007297.3:c.5405A>T	NP_009228.2:p.Glu1802Val
NM_007298.3:c.2234A>T	NP_009229.2:p.Glu745Val
NM_007299.3:c.*60A>T	NP_009230.2:n.*60A>T
NM_007300.3:c.5609A>T	NP_009231.2:p.Glu1870Val
NR_027676.1:n.5682A>T
NM_007294.4:c.5546A>T MANE Select	NP_009225.1:p.Glu1849Val
NM_007297.4:c.5405A>T	NP_009228.2:p.Glu1802Val
NM_007299.4:c.*60A>T	NP_009230.2:n.*60A>T
NM_007300.4:c.5609A>T	NP_009231.2:p.Glu1870Val
NR_027676.2:n.5723A>T