Canonical Allele Identifier: CA055411

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1748439
• ClinVar RCV Id: RCV002344768
• dbSNP Id: rs761585448
• ExAC: 17:41197703 G / A
• gnomAD v2: 17-41197703-G-A
• gnomAD v4: 17-43045686-G-A
• MyVariant Identifiers: chr17:g.41197703G>A (hg19) ; chr17:g.43045686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045686G>A , CM000679.2:g.43045686G>A	GRCh38
NC_000017.10:g.41197703G>A , CM000679.1:g.41197703G>A	GRCh37
NC_000017.9:g.38451229G>A	NCBI36
NG_005905.2:g.172298C>T , LRG_292:g.172298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5581C>T	ENSP00000417241.2:p.His1861Tyr
ENST00000470026.6:c.5584C>T	ENSP00000419274.2:p.His1862Tyr
ENST00000473961.6:c.5458C>T	ENSP00000420201.2:p.His1820Tyr
ENST00000476777.6:c.5578C>T	ENSP00000417554.2:p.His1860Tyr
ENST00000477152.6:c.5506C>T	ENSP00000419988.2:p.His1836Tyr
ENST00000478531.6:c.2272C>T	ENSP00000420412.2:p.His758Tyr
ENST00000489037.2:c.5506C>T	ENSP00000420781.2:p.His1836Tyr
ENST00000493919.6:c.2134C>T	ENSP00000418819.2:p.His712Tyr
ENST00000494123.6:c.5584C>T	ENSP00000419103.2:p.His1862Tyr
ENST00000497488.2:c.4696C>T	ENSP00000418986.2:p.His1566Tyr
ENST00000618469.2:c.5584C>T	ENSP00000478114.2:p.His1862Tyr
ENST00000634433.2:c.5461C>T	ENSP00000489431.2:p.His1821Tyr
ENST00000644379.2:c.5650C>T	ENSP00000496570.2:p.His1884Tyr
ENST00000644555.2:c.2134C>T	ENSP00000494614.2:p.His712Tyr
ENST00000652672.2:c.5443C>T	ENSP00000498906.2:p.His1815Tyr
ENST00000484087.6:c.2146C>T	ENSP00000419481.2:p.His716Tyr
ENST00000700081.1:n.1467C>T
ENST00000700082.1:n.948C>T
ENST00000357654.9:c.5584C>T MANE Select	ENSP00000350283.3:p.His1862Tyr
ENST00000471181.7:c.5647C>T	ENSP00000418960.2:p.His1883Tyr
ENST00000644379.1:c.1971C>T
ENST00000352993.7:c.2158C>T	ENSP00000312236.5:p.His720Tyr
ENST00000357654.7:c.5584C>T	ENSP00000350283.3:p.His1862Tyr
ENST00000461221.5:c.*5367C>T	ENSP00000418548.1:n.*5367C>T
ENST00000468300.5:c.*98C>T	ENSP00000417148.1:n.*98C>T
ENST00000471181.6:c.5647C>T	ENSP00000418960.2:p.His1883Tyr
ENST00000491747.6:c.2272C>T	ENSP00000420705.2:p.His758Tyr
ENST00000493795.5:c.5443C>T	ENSP00000418775.1:p.His1815Tyr
ENST00000586385.5:c.514C>T	ENSP00000465818.1:p.His172Tyr
ENST00000591534.5:c.1057C>T	ENSP00000467329.1:p.His353Tyr
ENST00000591849.5:c.283C>T	ENSP00000465347.1:p.His95Tyr
NM_007294.3:c.5584C>T , LRG_292t1:c.5584C>T	NP_009225.1:p.His1862Tyr
NM_007297.3:c.5443C>T	NP_009228.2:p.His1815Tyr
NM_007298.3:c.2272C>T	NP_009229.2:p.His758Tyr
NM_007299.3:c.*98C>T	NP_009230.2:n.*98C>T
NM_007300.3:c.5647C>T	NP_009231.2:p.His1883Tyr
NR_027676.1:n.5720C>T
NM_007294.4:c.5584C>T MANE Select	NP_009225.1:p.His1862Tyr
NM_007297.4:c.5443C>T	NP_009228.2:p.His1815Tyr
NM_007299.4:c.*98C>T	NP_009230.2:n.*98C>T
NM_007300.4:c.5647C>T	NP_009231.2:p.His1883Tyr
NR_027676.2:n.5761C>T