Canonical Allele Identifier: CA003667

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55598
• ClinVar RCV Id: RCV000049017 ; RCV000077626 ; RCV000132307 ; RCV000255915 ; RCV002247446
• dbSNP Id: rs80357268
• gnomAD v2: 17-41197790-C-T
• gnomAD v4: 17-43045773-C-T
• MyVariant Identifiers: chr17:g.41197790C>T (hg19) ; chr17:g.43045773C>T (hg38)
• PubMed: PMID:9799248 ; PMID:10946236 ; PMID:12142080 ; PMID:14534301 ; PMID:15004537 ; PMID:15172985 ; PMID:16267036 ; PMID:16284991 ; PMID:17305420 ; PMID:17493881 ; PMID:18992264 ; PMID:19452558 ; PMID:20378548 ; PMID:20516115 ; PMID:23536787 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045773C>T , CM000679.2:g.43045773C>T	GRCh38
NC_000017.10:g.41197790C>T , CM000679.1:g.41197790C>T	GRCh37
NC_000017.9:g.38451316C>T	NCBI36
NG_005905.2:g.172211G>A , LRG_292:g.172211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5494G>A	ENSP00000417241.2:p.Val1832Met
ENST00000470026.6:c.5497G>A	ENSP00000419274.2:p.Val1833Met
ENST00000473961.6:c.5371G>A	ENSP00000420201.2:p.Val1791Met
ENST00000476777.6:c.5491G>A	ENSP00000417554.2:p.Val1831Met
ENST00000477152.6:c.5419G>A	ENSP00000419988.2:p.Val1807Met
ENST00000478531.6:c.2185G>A	ENSP00000420412.2:p.Val729Met
ENST00000489037.2:c.5419G>A	ENSP00000420781.2:p.Val1807Met
ENST00000493919.6:c.2047G>A	ENSP00000418819.2:p.Val683Met
ENST00000494123.6:c.5497G>A	ENSP00000419103.2:p.Val1833Met
ENST00000497488.2:c.4609G>A	ENSP00000418986.2:p.Val1537Met
ENST00000618469.2:c.5497G>A	ENSP00000478114.2:p.Val1833Met
ENST00000634433.2:c.5374G>A	ENSP00000489431.2:p.Val1792Met
ENST00000644379.2:c.5563G>A	ENSP00000496570.2:p.Val1855Met
ENST00000644555.2:c.2047G>A	ENSP00000494614.2:p.Val683Met
ENST00000652672.2:c.5356G>A	ENSP00000498906.2:p.Val1786Met
ENST00000484087.6:c.2059G>A	ENSP00000419481.2:p.Val687Met
ENST00000700081.1:n.1380G>A
ENST00000700082.1:n.861G>A
ENST00000357654.9:c.5497G>A MANE Select	ENSP00000350283.3:p.Val1833Met
ENST00000471181.7:c.5560G>A	ENSP00000418960.2:p.Val1854Met
ENST00000644379.1:c.1884G>A
ENST00000352993.7:c.2071G>A	ENSP00000312236.5:p.Val691Met
ENST00000357654.7:c.5497G>A	ENSP00000350283.3:p.Val1833Met
ENST00000461221.5:c.*5280G>A	ENSP00000418548.1:n.*5280G>A
ENST00000468300.5:c.*11G>A	ENSP00000417148.1:n.*11G>A
ENST00000471181.6:c.5560G>A	ENSP00000418960.2:p.Val1854Met
ENST00000491747.6:c.2185G>A	ENSP00000420705.2:p.Val729Met
ENST00000493795.5:c.5356G>A	ENSP00000418775.1:p.Val1786Met
ENST00000586385.5:c.427G>A	ENSP00000465818.1:p.Val143Met
ENST00000591534.5:c.970G>A	ENSP00000467329.1:p.Val324Met
ENST00000591849.5:c.196G>A	ENSP00000465347.1:p.Val66Met
NM_007294.3:c.5497G>A , LRG_292t1:c.5497G>A	NP_009225.1:p.Val1833Met
NM_007297.3:c.5356G>A	NP_009228.2:p.Val1786Met
NM_007298.3:c.2185G>A	NP_009229.2:p.Val729Met
NM_007299.3:c.*11G>A	NP_009230.2:n.*11G>A
NM_007300.3:c.5560G>A	NP_009231.2:p.Val1854Met
NR_027676.1:n.5633G>A
NM_007294.4:c.5497G>A MANE Select	NP_009225.1:p.Val1833Met
NM_007297.4:c.5356G>A	NP_009228.2:p.Val1786Met
NM_007299.4:c.*11G>A	NP_009230.2:n.*11G>A
NM_007300.4:c.5560G>A	NP_009231.2:p.Val1854Met
NR_027676.2:n.5674G>A