Canonical Allele Identifier: CA10590249

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864986
• ClinVar RCV Id: RCV001072300
• dbSNP Id: rs2050867530
• MyVariant Identifiers: chr17:g.41197750T>C (hg19) ; chr17:g.43045733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045733T>C , CM000679.2:g.43045733T>C	GRCh38
NC_000017.10:g.41197750T>C , CM000679.1:g.41197750T>C	GRCh37
NC_000017.9:g.38451276T>C	NCBI36
NG_005905.2:g.172251A>G , LRG_292:g.172251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5534A>G	ENSP00000417241.2:p.Gln1845Arg
ENST00000470026.6:c.5537A>G	ENSP00000419274.2:p.Gln1846Arg
ENST00000473961.6:c.5411A>G	ENSP00000420201.2:p.Gln1804Arg
ENST00000476777.6:c.5531A>G	ENSP00000417554.2:p.Gln1844Arg
ENST00000477152.6:c.5459A>G	ENSP00000419988.2:p.Gln1820Arg
ENST00000478531.6:c.2225A>G	ENSP00000420412.2:p.Gln742Arg
ENST00000489037.2:c.5459A>G	ENSP00000420781.2:p.Gln1820Arg
ENST00000493919.6:c.2087A>G	ENSP00000418819.2:p.Gln696Arg
ENST00000494123.6:c.5537A>G	ENSP00000419103.2:p.Gln1846Arg
ENST00000497488.2:c.4649A>G	ENSP00000418986.2:p.Gln1550Arg
ENST00000618469.2:c.5537A>G	ENSP00000478114.2:p.Gln1846Arg
ENST00000634433.2:c.5414A>G	ENSP00000489431.2:p.Gln1805Arg
ENST00000644379.2:c.5603A>G	ENSP00000496570.2:p.Gln1868Arg
ENST00000644555.2:c.2087A>G	ENSP00000494614.2:p.Gln696Arg
ENST00000652672.2:c.5396A>G	ENSP00000498906.2:p.Gln1799Arg
ENST00000484087.6:c.2099A>G	ENSP00000419481.2:p.Gln700Arg
ENST00000700081.1:n.1420A>G
ENST00000700082.1:n.901A>G
ENST00000357654.9:c.5537A>G MANE Select	ENSP00000350283.3:p.Gln1846Arg
ENST00000471181.7:c.5600A>G	ENSP00000418960.2:p.Gln1867Arg
ENST00000644379.1:c.1924A>G
ENST00000352993.7:c.2111A>G	ENSP00000312236.5:p.Gln704Arg
ENST00000357654.7:c.5537A>G	ENSP00000350283.3:p.Gln1846Arg
ENST00000461221.5:c.*5320A>G	ENSP00000418548.1:n.*5320A>G
ENST00000468300.5:c.*51A>G	ENSP00000417148.1:n.*51A>G
ENST00000471181.6:c.5600A>G	ENSP00000418960.2:p.Gln1867Arg
ENST00000491747.6:c.2225A>G	ENSP00000420705.2:p.Gln742Arg
ENST00000493795.5:c.5396A>G	ENSP00000418775.1:p.Gln1799Arg
ENST00000586385.5:c.467A>G	ENSP00000465818.1:p.Gln156Arg
ENST00000591534.5:c.1010A>G	ENSP00000467329.1:p.Gln337Arg
ENST00000591849.5:c.236A>G	ENSP00000465347.1:p.Gln79Arg
NM_007294.3:c.5537A>G , LRG_292t1:c.5537A>G	NP_009225.1:p.Gln1846Arg
NM_007297.3:c.5396A>G	NP_009228.2:p.Gln1799Arg
NM_007298.3:c.2225A>G	NP_009229.2:p.Gln742Arg
NM_007299.3:c.*51A>G	NP_009230.2:n.*51A>G
NM_007300.3:c.5600A>G	NP_009231.2:p.Gln1867Arg
NR_027676.1:n.5673A>G
NM_007294.4:c.5537A>G MANE Select	NP_009225.1:p.Gln1846Arg
NM_007297.4:c.5396A>G	NP_009228.2:p.Gln1799Arg
NM_007299.4:c.*51A>G	NP_009230.2:n.*51A>G
NM_007300.4:c.5600A>G	NP_009231.2:p.Gln1867Arg
NR_027676.2:n.5714A>G