Canonical Allele Identifier: CA003699

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55615
• ClinVar RCV Id: RCV001358221
• dbSNP Id: rs80357323
• ExAC: 17:41197756 A / C
• gnomAD v2: 17-41197756-A-C
• gnomAD v3: 17-43045739-A-C
• gnomAD v4: 17-43045739-A-C
• MyVariant Identifiers: chr17:g.41197756A>C (hg19) ; chr17:g.43045739A>C (hg38)
• PubMed: PMID:16267036 ; PMID:17305420 ; PMID:20516115 ; PMID:21447777 ; PMID:24845084 ; PMID:24916970 ; PMID:26543556

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045739A>C , CM000679.2:g.43045739A>C	GRCh38
NC_000017.10:g.41197756A>C , CM000679.1:g.41197756A>C	GRCh37
NC_000017.9:g.38451282A>C	NCBI36
NG_005905.2:g.172245T>G , LRG_292:g.172245T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5528T>G	ENSP00000417241.2:p.Leu1843Arg
ENST00000470026.6:c.5531T>G	ENSP00000419274.2:p.Leu1844Arg
ENST00000473961.6:c.5405T>G	ENSP00000420201.2:p.Leu1802Arg
ENST00000476777.6:c.5525T>G	ENSP00000417554.2:p.Leu1842Arg
ENST00000477152.6:c.5453T>G	ENSP00000419988.2:p.Leu1818Arg
ENST00000478531.6:c.2219T>G	ENSP00000420412.2:p.Leu740Arg
ENST00000489037.2:c.5453T>G	ENSP00000420781.2:p.Leu1818Arg
ENST00000493919.6:c.2081T>G	ENSP00000418819.2:p.Leu694Arg
ENST00000494123.6:c.5531T>G	ENSP00000419103.2:p.Leu1844Arg
ENST00000497488.2:c.4643T>G	ENSP00000418986.2:p.Leu1548Arg
ENST00000618469.2:c.5531T>G	ENSP00000478114.2:p.Leu1844Arg
ENST00000634433.2:c.5408T>G	ENSP00000489431.2:p.Leu1803Arg
ENST00000644379.2:c.5597T>G	ENSP00000496570.2:p.Leu1866Arg
ENST00000644555.2:c.2081T>G	ENSP00000494614.2:p.Leu694Arg
ENST00000652672.2:c.5390T>G	ENSP00000498906.2:p.Leu1797Arg
ENST00000484087.6:c.2093T>G	ENSP00000419481.2:p.Leu698Arg
ENST00000700081.1:n.1414T>G
ENST00000700082.1:n.895T>G
ENST00000357654.9:c.5531T>G MANE Select	ENSP00000350283.3:p.Leu1844Arg
ENST00000471181.7:c.5594T>G	ENSP00000418960.2:p.Leu1865Arg
ENST00000644379.1:c.1918T>G
ENST00000352993.7:c.2105T>G	ENSP00000312236.5:p.Leu702Arg
ENST00000357654.7:c.5531T>G	ENSP00000350283.3:p.Leu1844Arg
ENST00000461221.5:c.*5314T>G	ENSP00000418548.1:n.*5314T>G
ENST00000468300.5:c.*45T>G	ENSP00000417148.1:n.*45T>G
ENST00000471181.6:c.5594T>G	ENSP00000418960.2:p.Leu1865Arg
ENST00000491747.6:c.2219T>G	ENSP00000420705.2:p.Leu740Arg
ENST00000493795.5:c.5390T>G	ENSP00000418775.1:p.Leu1797Arg
ENST00000586385.5:c.461T>G	ENSP00000465818.1:p.Leu154Arg
ENST00000591534.5:c.1004T>G	ENSP00000467329.1:p.Leu335Arg
ENST00000591849.5:c.230T>G	ENSP00000465347.1:p.Leu77Arg
NM_007294.3:c.5531T>G , LRG_292t1:c.5531T>G	NP_009225.1:p.Leu1844Arg
NM_007297.3:c.5390T>G	NP_009228.2:p.Leu1797Arg
NM_007298.3:c.2219T>G	NP_009229.2:p.Leu740Arg
NM_007299.3:c.*45T>G	NP_009230.2:n.*45T>G
NM_007300.3:c.5594T>G	NP_009231.2:p.Leu1865Arg
NR_027676.1:n.5667T>G
NM_007294.4:c.5531T>G MANE Select	NP_009225.1:p.Leu1844Arg
NM_007297.4:c.5390T>G	NP_009228.2:p.Leu1797Arg
NM_007299.4:c.*45T>G	NP_009230.2:n.*45T>G
NM_007300.4:c.5594T>G	NP_009231.2:p.Leu1865Arg
NR_027676.2:n.5708T>G