Canonical Allele Identifier: CA10593051

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2691994
• ClinVar RCV Id: RCV003494191
• dbSNP Id: rs2154146336
• MyVariant Identifiers: chr17:g.41234442C>A (hg19) ; chr17:g.43082425C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082425C>A , CM000679.2:g.43082425C>A	GRCh38
NC_000017.10:g.41234442C>A , CM000679.1:g.41234442C>A	GRCh37
NC_000017.9:g.38487968C>A	NCBI36
NG_005905.2:g.135559G>T , LRG_292:g.135559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4336G>T	ENSP00000417241.2:p.Glu1446Ter
ENST00000470026.6:c.4336G>T	ENSP00000419274.2:p.Glu1446Ter
ENST00000473961.6:c.4210G>T	ENSP00000420201.2:p.Glu1404Ter
ENST00000476777.6:c.4330G>T	ENSP00000417554.2:p.Glu1444Ter
ENST00000477152.6:c.4258G>T	ENSP00000419988.2:p.Glu1420Ter
ENST00000478531.6:c.1024G>T	ENSP00000420412.2:p.Glu342Ter
ENST00000489037.2:c.4258G>T	ENSP00000420781.2:p.Glu1420Ter
ENST00000493919.6:c.886G>T	ENSP00000418819.2:p.Glu296Ter
ENST00000494123.6:c.4336G>T	ENSP00000419103.2:p.Glu1446Ter
ENST00000497488.2:c.3448G>T	ENSP00000418986.2:p.Glu1150Ter
ENST00000618469.2:c.4336G>T	ENSP00000478114.2:p.Glu1446Ter
ENST00000634433.2:c.4213G>T	ENSP00000489431.2:p.Glu1405Ter
ENST00000644379.2:c.4336G>T	ENSP00000496570.2:p.Glu1446Ter
ENST00000644555.2:c.886G>T	ENSP00000494614.2:p.Glu296Ter
ENST00000652672.2:c.4195G>T	ENSP00000498906.2:p.Glu1399Ter
ENST00000484087.6:c.901G>T	ENSP00000419481.2:p.Glu301Ter
ENST00000700182.1:c.946G>T	ENSP00000514849.1:p.Glu316Ter
ENST00000357654.9:c.4336G>T MANE Select	ENSP00000350283.3:p.Glu1446Ter
ENST00000471181.7:c.4336G>T	ENSP00000418960.2:p.Glu1446Ter
ENST00000644379.1:c.657G>T
ENST00000352993.7:c.910G>T	ENSP00000312236.5:p.Glu304Ter
ENST00000357654.7:c.4336G>T	ENSP00000350283.3:p.Glu1446Ter
ENST00000461221.5:c.*4119G>T	ENSP00000418548.1:n.*4119G>T
ENST00000461574.1:c.630G>T
ENST00000468300.5:c.1027G>T	ENSP00000417148.1:p.Glu343Ter
ENST00000471181.6:c.4336G>T	ENSP00000418960.2:p.Glu1446Ter
ENST00000478531.5:c.1024G>T	ENSP00000420412.1:p.Glu342Ter
ENST00000484087.5:c.649G>T	ENSP00000419481.1:p.Glu217Ter
ENST00000487825.5:c.652G>T	ENSP00000418212.1:p.Glu218Ter
ENST00000491747.6:c.1027G>T	ENSP00000420705.2:p.Glu343Ter
ENST00000493795.5:c.4195G>T	ENSP00000418775.1:p.Glu1399Ter
ENST00000493919.5:c.886G>T	ENSP00000418819.1:p.Glu296Ter
ENST00000586385.5:c.5-18474G>T	ENSP00000465818.1:n.5-18474G>T
ENST00000591534.5:c.-43-7904G>T	ENSP00000467329.1:n.-43-7904G>T
ENST00000591849.5:c.-98-32235G>T	ENSP00000465347.1:n.-98-32235G>T
ENST00000621897.1:n.230G>T
NM_007294.3:c.4336G>T , LRG_292t1:c.4336G>T	NP_009225.1:p.Glu1446Ter
NM_007297.3:c.4195G>T	NP_009228.2:p.Glu1399Ter
NM_007298.3:c.1027G>T	NP_009229.2:p.Glu343Ter
NM_007299.3:c.1027G>T	NP_009230.2:p.Glu343Ter
NM_007300.3:c.4336G>T	NP_009231.2:p.Glu1446Ter
NR_027676.1:n.4472G>T
NM_007294.4:c.4336G>T MANE Select	NP_009225.1:p.Glu1446Ter
NM_007297.4:c.4195G>T	NP_009228.2:p.Glu1399Ter
NM_007299.4:c.1027G>T	NP_009230.2:p.Glu343Ter
NM_007300.4:c.4336G>T	NP_009231.2:p.Glu1446Ter
NR_027676.2:n.4513G>T