Canonical Allele Identifier: CA003539

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142002
• ClinVar RCV Id: RCV000130773 ; RCV000210112 ; RCV000637444
• dbSNP Id: rs145758886
• gnomAD v4: 17-43049156-C-A
• MyVariant Identifiers: chr17:g.41201173C>A (hg19) ; chr17:g.43049156C>A (hg38)
• PubMed: PMID:18528753 ; PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049156C>A , CM000679.2:g.43049156C>A	GRCh38
NC_000017.10:g.41201173C>A , CM000679.1:g.41201173C>A	GRCh37
NC_000017.9:g.38454699C>A	NCBI36
NG_005905.2:g.168828G>T , LRG_292:g.168828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5368G>T	ENSP00000417241.2:p.Val1790Leu
ENST00000470026.6:c.5371G>T	ENSP00000419274.2:p.Val1791Leu
ENST00000473961.6:c.5245G>T	ENSP00000420201.2:p.Val1749Leu
ENST00000476777.6:c.5365G>T	ENSP00000417554.2:p.Val1789Leu
ENST00000477152.6:c.5293G>T	ENSP00000419988.2:p.Val1765Leu
ENST00000478531.6:c.2059G>T	ENSP00000420412.2:p.Val687Leu
ENST00000489037.2:c.5293G>T	ENSP00000420781.2:p.Val1765Leu
ENST00000493919.6:c.1921G>T	ENSP00000418819.2:p.Val641Leu
ENST00000494123.6:c.5371G>T	ENSP00000419103.2:p.Val1791Leu
ENST00000497488.2:c.4483G>T	ENSP00000418986.2:p.Val1495Leu
ENST00000618469.2:c.5371G>T	ENSP00000478114.2:p.Val1791Leu
ENST00000634433.2:c.5248G>T	ENSP00000489431.2:p.Val1750Leu
ENST00000644379.2:c.5437G>T	ENSP00000496570.2:p.Val1813Leu
ENST00000644555.2:c.1921G>T	ENSP00000494614.2:p.Val641Leu
ENST00000652672.2:c.5230G>T	ENSP00000498906.2:p.Val1744Leu
ENST00000484087.6:c.1933G>T	ENSP00000419481.2:p.Val645Leu
ENST00000700081.1:n.1254G>T
ENST00000357654.9:c.5371G>T MANE Select	ENSP00000350283.3:p.Val1791Leu
ENST00000471181.7:c.5434G>T	ENSP00000418960.2:p.Val1812Leu
ENST00000644379.1:c.1758G>T
ENST00000352993.7:c.1945G>T	ENSP00000312236.5:p.Val649Leu
ENST00000357654.7:c.5371G>T	ENSP00000350283.3:p.Val1791Leu
ENST00000461221.5:c.*5154G>T	ENSP00000418548.1:n.*5154G>T
ENST00000468300.5:c.2021-1453G>T	ENSP00000417148.1:n.2021-1453G>T
ENST00000471181.6:c.5434G>T	ENSP00000418960.2:p.Val1812Leu
ENST00000491747.6:c.2059G>T	ENSP00000420705.2:p.Val687Leu
ENST00000493795.5:c.5230G>T	ENSP00000418775.1:p.Val1744Leu
ENST00000586385.5:c.301G>T	ENSP00000465818.1:p.Val101Leu
ENST00000591534.5:c.844G>T	ENSP00000467329.1:p.Val282Leu
ENST00000591849.5:c.70G>T	ENSP00000465347.1:p.Val24Leu
NM_007294.3:c.5371G>T , LRG_292t1:c.5371G>T	NP_009225.1:p.Val1791Leu
NM_007297.3:c.5230G>T	NP_009228.2:p.Val1744Leu
NM_007298.3:c.2059G>T	NP_009229.2:p.Val687Leu
NM_007299.3:c.2021-1453G>T	NP_009230.2:n.2021-1453G>T
NM_007300.3:c.5434G>T	NP_009231.2:p.Val1812Leu
NR_027676.1:n.5507G>T
NM_007294.4:c.5371G>T MANE Select	NP_009225.1:p.Val1791Leu
NM_007297.4:c.5230G>T	NP_009228.2:p.Val1744Leu
NM_007299.4:c.2021-1453G>T	NP_009230.2:n.2021-1453G>T
NM_007300.4:c.5434G>T	NP_009231.2:p.Val1812Leu
NR_027676.2:n.5548G>T