Canonical Allele Identifier: CA10580495

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 232047
• ClinVar RCV Id: RCV000221287 ; RCV000538997 ; RCV001077019 ; RCV003477738
• dbSNP Id: rs80356957
• MyVariant Identifiers: chr17:g.41209146A>T (hg19) ; chr17:g.43057129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057129A>T , CM000679.2:g.43057129A>T	GRCh38
NC_000017.10:g.41209146A>T , CM000679.1:g.41209146A>T	GRCh37
NC_000017.9:g.38462672A>T	NCBI36
NG_005905.2:g.160855T>A , LRG_292:g.160855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5197T>A	ENSP00000417241.2:p.Phe1733Ile
ENST00000470026.6:c.5200T>A	ENSP00000419274.2:p.Phe1734Ile
ENST00000473961.6:c.5074T>A	ENSP00000420201.2:p.Phe1692Ile
ENST00000476777.6:c.5194T>A	ENSP00000417554.2:p.Phe1732Ile
ENST00000477152.6:c.5122T>A	ENSP00000419988.2:p.Phe1708Ile
ENST00000478531.6:c.1888T>A	ENSP00000420412.2:p.Phe630Ile
ENST00000489037.2:c.5122T>A	ENSP00000420781.2:p.Phe1708Ile
ENST00000493919.6:c.1750T>A	ENSP00000418819.2:p.Phe584Ile
ENST00000494123.6:c.5200T>A	ENSP00000419103.2:p.Phe1734Ile
ENST00000497488.2:c.4312T>A	ENSP00000418986.2:p.Phe1438Ile
ENST00000618469.2:c.5200T>A	ENSP00000478114.2:p.Phe1734Ile
ENST00000634433.2:c.5077T>A	ENSP00000489431.2:p.Phe1693Ile
ENST00000644379.2:c.5266T>A	ENSP00000496570.2:p.Phe1756Ile
ENST00000644555.2:c.1750T>A	ENSP00000494614.2:p.Phe584Ile
ENST00000652672.2:c.5059T>A	ENSP00000498906.2:p.Phe1687Ile
ENST00000484087.6:c.1762T>A	ENSP00000419481.2:p.Phe588Ile
ENST00000357654.9:c.5200T>A MANE Select	ENSP00000350283.3:p.Phe1734Ile
ENST00000471181.7:c.5263T>A	ENSP00000418960.2:p.Phe1755Ile
ENST00000644379.1:c.1587T>A
ENST00000352993.7:c.1774T>A	ENSP00000312236.5:p.Phe592Ile
ENST00000357654.7:c.5200T>A	ENSP00000350283.3:p.Phe1734Ile
ENST00000461221.5:c.*4983T>A	ENSP00000418548.1:n.*4983T>A
ENST00000468300.5:c.1888T>A	ENSP00000417148.1:p.Phe630Ile
ENST00000471181.6:c.5263T>A	ENSP00000418960.2:p.Phe1755Ile
ENST00000491747.6:c.1888T>A	ENSP00000420705.2:p.Phe630Ile
ENST00000493795.5:c.5059T>A	ENSP00000418775.1:p.Phe1687Ile
ENST00000586385.5:c.130T>A	ENSP00000465818.1:p.Phe44Ile
ENST00000591534.5:c.673T>A	ENSP00000467329.1:p.Phe225Ile
ENST00000591849.5:c.-98-6939T>A	ENSP00000465347.1:n.-98-6939T>A
NM_007294.3:c.5200T>A , LRG_292t1:c.5200T>A	NP_009225.1:p.Phe1734Ile
NM_007297.3:c.5059T>A	NP_009228.2:p.Phe1687Ile
NM_007298.3:c.1888T>A	NP_009229.2:p.Phe630Ile
NM_007299.3:c.1888T>A	NP_009230.2:p.Phe630Ile
NM_007300.3:c.5263T>A	NP_009231.2:p.Phe1755Ile
NR_027676.1:n.5336T>A
NM_007294.4:c.5200T>A MANE Select	NP_009225.1:p.Phe1734Ile
NM_007297.4:c.5059T>A	NP_009228.2:p.Phe1687Ile
NM_007299.4:c.1888T>A	NP_009230.2:p.Phe630Ile
NM_007300.4:c.5263T>A	NP_009231.2:p.Phe1755Ile
NR_027676.2:n.5377T>A