Canonical Allele Identifier: CA10590525

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868496
• ClinVar RCV Id: RCV001077408
• dbSNP Id: rs2050983659
• MyVariant Identifiers: chr17:g.41199684A>T (hg19) ; chr17:g.43047667A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047667A>T , CM000679.2:g.43047667A>T	GRCh38
NC_000017.10:g.41199684A>T , CM000679.1:g.41199684A>T	GRCh37
NC_000017.9:g.38453210A>T	NCBI36
NG_005905.2:g.170317T>A , LRG_292:g.170317T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5440T>A	ENSP00000417241.2:p.Trp1814Arg
ENST00000470026.6:c.5443T>A	ENSP00000419274.2:p.Trp1815Arg
ENST00000473961.6:c.5317T>A	ENSP00000420201.2:p.Trp1773Arg
ENST00000476777.6:c.5437T>A	ENSP00000417554.2:p.Trp1813Arg
ENST00000477152.6:c.5365T>A	ENSP00000419988.2:p.Trp1789Arg
ENST00000478531.6:c.2131T>A	ENSP00000420412.2:p.Trp711Arg
ENST00000489037.2:c.5365T>A	ENSP00000420781.2:p.Trp1789Arg
ENST00000493919.6:c.1993T>A	ENSP00000418819.2:p.Trp665Arg
ENST00000494123.6:c.5443T>A	ENSP00000419103.2:p.Trp1815Arg
ENST00000497488.2:c.4555T>A	ENSP00000418986.2:p.Trp1519Arg
ENST00000618469.2:c.5443T>A	ENSP00000478114.2:p.Trp1815Arg
ENST00000634433.2:c.5320T>A	ENSP00000489431.2:p.Trp1774Arg
ENST00000644379.2:c.5509T>A	ENSP00000496570.2:p.Trp1837Arg
ENST00000644555.2:c.1993T>A	ENSP00000494614.2:p.Trp665Arg
ENST00000652672.2:c.5302T>A	ENSP00000498906.2:p.Trp1768Arg
ENST00000484087.6:c.2005T>A	ENSP00000419481.2:p.Trp669Arg
ENST00000700081.1:n.1326T>A
ENST00000700082.1:n.807T>A
ENST00000357654.9:c.5443T>A MANE Select	ENSP00000350283.3:p.Trp1815Arg
ENST00000471181.7:c.5506T>A	ENSP00000418960.2:p.Trp1836Arg
ENST00000644379.1:c.1830T>A
ENST00000352993.7:c.2017T>A	ENSP00000312236.5:p.Trp673Arg
ENST00000357654.7:c.5443T>A	ENSP00000350283.3:p.Trp1815Arg
ENST00000461221.5:c.*5226T>A	ENSP00000418548.1:n.*5226T>A
ENST00000468300.5:c.2057T>A	ENSP00000417148.1:p.Leu686Gln
ENST00000471181.6:c.5506T>A	ENSP00000418960.2:p.Trp1836Arg
ENST00000491747.6:c.2131T>A	ENSP00000420705.2:p.Trp711Arg
ENST00000493795.5:c.5302T>A	ENSP00000418775.1:p.Trp1768Arg
ENST00000586385.5:c.373T>A	ENSP00000465818.1:p.Trp125Arg
ENST00000591534.5:c.916T>A	ENSP00000467329.1:p.Trp306Arg
ENST00000591849.5:c.142T>A	ENSP00000465347.1:p.Trp48Arg
NM_007294.3:c.5443T>A , LRG_292t1:c.5443T>A	NP_009225.1:p.Trp1815Arg
NM_007297.3:c.5302T>A	NP_009228.2:p.Trp1768Arg
NM_007298.3:c.2131T>A	NP_009229.2:p.Trp711Arg
NM_007299.3:c.2057T>A	NP_009230.2:p.Leu686Gln
NM_007300.3:c.5506T>A	NP_009231.2:p.Trp1836Arg
NR_027676.1:n.5579T>A
NM_007294.4:c.5443T>A MANE Select	NP_009225.1:p.Trp1815Arg
NM_007297.4:c.5302T>A	NP_009228.2:p.Trp1768Arg
NM_007299.4:c.2057T>A	NP_009230.2:p.Leu686Gln
NM_007300.4:c.5506T>A	NP_009231.2:p.Trp1836Arg
NR_027676.2:n.5620T>A