Canonical Allele Identifier: CA003350

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125806
• ClinVar RCV Id: RCV000112561
• dbSNP Id: rs80356957
• MyVariant Identifiers: chr17:g.41209146A>G (hg19) ; chr17:g.43057129A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5197T>C	ENSP00000417241.2:p.Phe1733Leu
ENST00000470026.6:c.5200T>C	ENSP00000419274.2:p.Phe1734Leu
ENST00000473961.6:c.5074T>C	ENSP00000420201.2:p.Phe1692Leu
ENST00000476777.6:c.5194T>C	ENSP00000417554.2:p.Phe1732Leu
ENST00000477152.6:c.5122T>C	ENSP00000419988.2:p.Phe1708Leu
ENST00000478531.6:c.1888T>C	ENSP00000420412.2:p.Phe630Leu
ENST00000489037.2:c.5122T>C	ENSP00000420781.2:p.Phe1708Leu
ENST00000493919.6:c.1750T>C	ENSP00000418819.2:p.Phe584Leu
ENST00000494123.6:c.5200T>C	ENSP00000419103.2:p.Phe1734Leu
ENST00000497488.2:c.4312T>C	ENSP00000418986.2:p.Phe1438Leu
ENST00000618469.2:c.5200T>C	ENSP00000478114.2:p.Phe1734Leu
ENST00000634433.2:c.5077T>C	ENSP00000489431.2:p.Phe1693Leu
ENST00000644379.2:c.5266T>C	ENSP00000496570.2:p.Phe1756Leu
ENST00000644555.2:c.1750T>C	ENSP00000494614.2:p.Phe584Leu
ENST00000652672.2:c.5059T>C	ENSP00000498906.2:p.Phe1687Leu
ENST00000484087.6:c.1762T>C	ENSP00000419481.2:p.Phe588Leu
ENST00000357654.9:c.5200T>C MANE Select	ENSP00000350283.3:p.Phe1734Leu
ENST00000471181.7:c.5263T>C	ENSP00000418960.2:p.Phe1755Leu
ENST00000644379.1:c.1587T>C
ENST00000352993.7:c.1774T>C	ENSP00000312236.5:p.Phe592Leu
ENST00000357654.7:c.5200T>C	ENSP00000350283.3:p.Phe1734Leu
ENST00000461221.5:c.*4983T>C	ENSP00000418548.1:n.*4983T>C
ENST00000468300.5:c.1888T>C	ENSP00000417148.1:p.Phe630Leu
ENST00000471181.6:c.5263T>C	ENSP00000418960.2:p.Phe1755Leu
ENST00000491747.6:c.1888T>C	ENSP00000420705.2:p.Phe630Leu
ENST00000493795.5:c.5059T>C	ENSP00000418775.1:p.Phe1687Leu
ENST00000586385.5:c.130T>C	ENSP00000465818.1:p.Phe44Leu
ENST00000591534.5:c.673T>C	ENSP00000467329.1:p.Phe225Leu
ENST00000591849.5:c.-98-6939T>C	ENSP00000465347.1:n.-98-6939T>C
NM_007294.3:c.5200T>C , LRG_292t1:c.5200T>C	NP_009225.1:p.Phe1734Leu
NM_007297.3:c.5059T>C	NP_009228.2:p.Phe1687Leu
NM_007298.3:c.1888T>C	NP_009229.2:p.Phe630Leu
NM_007299.3:c.1888T>C	NP_009230.2:p.Phe630Leu
NM_007300.3:c.5263T>C	NP_009231.2:p.Phe1755Leu
NR_027676.1:n.5336T>C
NM_007294.4:c.5200T>C MANE Select	NP_009225.1:p.Phe1734Leu
NM_007297.4:c.5059T>C	NP_009228.2:p.Phe1687Leu
NM_007299.4:c.1888T>C	NP_009230.2:p.Phe630Leu
NM_007300.4:c.5263T>C	NP_009231.2:p.Phe1755Leu
NR_027676.2:n.5377T>C