Canonical Allele Identifier: CA003118

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125738
• ClinVar RCV Id: RCV000112442 ; RCV000802713
• dbSNP Id: rs80358162
• MyVariant Identifiers: chr17:g.41222944C>T (hg19) ; chr17:g.43070927C>T (hg38)
• PubMed: PMID:24961674

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070927C>T , CM000679.2:g.43070927C>T	GRCh38
NC_000017.10:g.41222944C>T , CM000679.1:g.41222944C>T	GRCh37
NC_000017.9:g.38476470C>T	NCBI36
NG_005905.2:g.147057G>A , LRG_292:g.147057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4983+1G>A	ENSP00000417241.2:n.4983+1G>A
ENST00000470026.6:c.4986+1G>A	ENSP00000419274.2:n.4986+1G>A
ENST00000473961.6:c.4860+1G>A	ENSP00000420201.2:n.4860+1G>A
ENST00000476777.6:c.4980+1G>A	ENSP00000417554.2:n.4980+1G>A
ENST00000477152.6:c.4908+1G>A	ENSP00000419988.2:n.4908+1G>A
ENST00000478531.6:c.1674+1G>A	ENSP00000420412.2:n.1674+1G>A
ENST00000489037.2:c.4908+1G>A	ENSP00000420781.2:n.4908+1G>A
ENST00000493919.6:c.1536+1G>A	ENSP00000418819.2:n.1536+1G>A
ENST00000494123.6:c.4986+1G>A	ENSP00000419103.2:n.4986+1G>A
ENST00000497488.2:c.4098+1G>A	ENSP00000418986.2:n.4098+1G>A
ENST00000618469.2:c.4986+1G>A	ENSP00000478114.2:n.4986+1G>A
ENST00000634433.2:c.4863+1G>A	ENSP00000489431.2:n.4863+1G>A
ENST00000644379.2:c.5052+1G>A	ENSP00000496570.2:n.5052+1G>A
ENST00000644555.2:c.1536+1G>A	ENSP00000494614.2:n.1536+1G>A
ENST00000652672.2:c.4845+1G>A	ENSP00000498906.2:n.4845+1G>A
ENST00000484087.6:c.1548+1G>A	ENSP00000419481.2:n.1548+1G>A
ENST00000700182.1:c.1594G>A	ENSP00000514849.1:p.Val532Met
ENST00000357654.9:c.4986+1G>A MANE Select	ENSP00000350283.3:n.4986+1G>A
ENST00000471181.7:c.5049+1G>A	ENSP00000418960.2:n.5049+1G>A
ENST00000644379.1:c.1373+1G>A
ENST00000352993.7:c.1560+1G>A	ENSP00000312236.5:n.1560+1G>A
ENST00000357654.7:c.4986+1G>A	ENSP00000350283.3:n.4986+1G>A
ENST00000461221.5:c.*4769+1G>A	ENSP00000418548.1:n.*4769+1G>A
ENST00000468300.5:c.1674+1G>A	ENSP00000417148.1:n.1674+1G>A
ENST00000471181.6:c.5049+1G>A	ENSP00000418960.2:n.5049+1G>A
ENST00000472490.1:n.139+1G>A
ENST00000478531.5:c.1674+1G>A	ENSP00000420412.1:n.1674+1G>A
ENST00000484087.5:c.1299+1G>A	ENSP00000419481.1:n.1299+1G>A
ENST00000491747.6:c.1674+1G>A	ENSP00000420705.2:n.1674+1G>A
ENST00000493795.5:c.4845+1G>A	ENSP00000418775.1:n.4845+1G>A
ENST00000493919.5:c.1536+1G>A	ENSP00000418819.1:n.1536+1G>A
ENST00000586385.5:c.5-6976G>A	ENSP00000465818.1:n.5-6976G>A
ENST00000591534.5:c.459+1G>A	ENSP00000467329.1:n.459+1G>A
ENST00000591849.5:c.-98-20737G>A	ENSP00000465347.1:n.-98-20737G>A
NM_007294.3:c.4986+1G>A , LRG_292t1:c.4986+1G>A	NP_009225.1:n.4986+1G>A
NM_007297.3:c.4845+1G>A	NP_009228.2:n.4845+1G>A
NM_007298.3:c.1674+1G>A	NP_009229.2:n.1674+1G>A
NM_007299.3:c.1674+1G>A	NP_009230.2:n.1674+1G>A
NM_007300.3:c.5049+1G>A	NP_009231.2:n.5049+1G>A
NR_027676.1:n.5122+1G>A
NM_007294.4:c.4986+1G>A MANE Select	NP_009225.1:n.4986+1G>A
NM_007297.4:c.4845+1G>A	NP_009228.2:n.4845+1G>A
NM_007299.4:c.1674+1G>A	NP_009230.2:n.1674+1G>A
NM_007300.4:c.5049+1G>A	NP_009231.2:n.5049+1G>A
NR_027676.2:n.5163+1G>A