Canonical Allele Identifier: CA003594

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55578
• ClinVar RCV Id: RCV000048993 ; RCV000077623 ; RCV000195396 ; RCV000165979
• dbSNP Id: rs80357040
• gnomAD v4: 17-43047678-T-C
• MyVariant Identifiers: chr17:g.41199695T>C (hg19) ; chr17:g.43047678T>C (hg38)
• PubMed: PMID:12496477 ; PMID:15235020

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047678T>C , CM000679.2:g.43047678T>C	GRCh38
NC_000017.10:g.41199695T>C , CM000679.1:g.41199695T>C	GRCh37
NC_000017.9:g.38453221T>C	NCBI36
NG_005905.2:g.170306A>G , LRG_292:g.170306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5429A>G	ENSP00000417241.2:p.Gln1810Arg
ENST00000470026.6:c.5432A>G	ENSP00000419274.2:p.Gln1811Arg
ENST00000473961.6:c.5306A>G	ENSP00000420201.2:p.Gln1769Arg
ENST00000476777.6:c.5426A>G	ENSP00000417554.2:p.Gln1809Arg
ENST00000477152.6:c.5354A>G	ENSP00000419988.2:p.Gln1785Arg
ENST00000478531.6:c.2120A>G	ENSP00000420412.2:p.Gln707Arg
ENST00000489037.2:c.5354A>G	ENSP00000420781.2:p.Gln1785Arg
ENST00000493919.6:c.1982A>G	ENSP00000418819.2:p.Gln661Arg
ENST00000494123.6:c.5432A>G	ENSP00000419103.2:p.Gln1811Arg
ENST00000497488.2:c.4544A>G	ENSP00000418986.2:p.Gln1515Arg
ENST00000618469.2:c.5432A>G	ENSP00000478114.2:p.Gln1811Arg
ENST00000634433.2:c.5309A>G	ENSP00000489431.2:p.Gln1770Arg
ENST00000644379.2:c.5498A>G	ENSP00000496570.2:p.Gln1833Arg
ENST00000644555.2:c.1982A>G	ENSP00000494614.2:p.Gln661Arg
ENST00000652672.2:c.5291A>G	ENSP00000498906.2:p.Gln1764Arg
ENST00000484087.6:c.1994A>G	ENSP00000419481.2:p.Gln665Arg
ENST00000700081.1:n.1315A>G
ENST00000700082.1:n.796A>G
ENST00000357654.9:c.5432A>G MANE Select	ENSP00000350283.3:p.Gln1811Arg
ENST00000471181.7:c.5495A>G	ENSP00000418960.2:p.Gln1832Arg
ENST00000644379.1:c.1819A>G
ENST00000352993.7:c.2006A>G	ENSP00000312236.5:p.Gln669Arg
ENST00000357654.7:c.5432A>G	ENSP00000350283.3:p.Gln1811Arg
ENST00000461221.5:c.*5215A>G	ENSP00000418548.1:n.*5215A>G
ENST00000468300.5:c.2046A>G	ENSP00000417148.1:p.Ala682=
ENST00000471181.6:c.5495A>G	ENSP00000418960.2:p.Gln1832Arg
ENST00000491747.6:c.2120A>G	ENSP00000420705.2:p.Gln707Arg
ENST00000493795.5:c.5291A>G	ENSP00000418775.1:p.Gln1764Arg
ENST00000586385.5:c.362A>G	ENSP00000465818.1:p.Gln121Arg
ENST00000591534.5:c.905A>G	ENSP00000467329.1:p.Gln302Arg
ENST00000591849.5:c.131A>G	ENSP00000465347.1:p.Gln44Arg
NM_007294.3:c.5432A>G , LRG_292t1:c.5432A>G	NP_009225.1:p.Gln1811Arg
NM_007297.3:c.5291A>G	NP_009228.2:p.Gln1764Arg
NM_007298.3:c.2120A>G	NP_009229.2:p.Gln707Arg
NM_007299.3:c.2046A>G	NP_009230.2:p.Ala682=
NM_007300.3:c.5495A>G	NP_009231.2:p.Gln1832Arg
NR_027676.1:n.5568A>G
NM_007294.4:c.5432A>G MANE Select	NP_009225.1:p.Gln1811Arg
NM_007297.4:c.5291A>G	NP_009228.2:p.Gln1764Arg
NM_007299.4:c.2046A>G	NP_009230.2:p.Ala682=
NM_007300.4:c.5495A>G	NP_009231.2:p.Gln1832Arg
NR_027676.2:n.5609A>G