Canonical Allele Identifier: CA10590556

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865506
• ClinVar RCV Id: RCV001072937
• dbSNP Id: rs2050986198
• MyVariant Identifiers: chr17:g.41199691T>C (hg19) ; chr17:g.43047674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047674T>C , CM000679.2:g.43047674T>C	GRCh38
NC_000017.10:g.41199691T>C , CM000679.1:g.41199691T>C	GRCh37
NC_000017.9:g.38453217T>C	NCBI36
NG_005905.2:g.170310A>G , LRG_292:g.170310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5433A>G	ENSP00000417241.2:p.Pro1811=
ENST00000470026.6:c.5436A>G	ENSP00000419274.2:p.Pro1812=
ENST00000473961.6:c.5310A>G	ENSP00000420201.2:p.Pro1770=
ENST00000476777.6:c.5430A>G	ENSP00000417554.2:p.Pro1810=
ENST00000477152.6:c.5358A>G	ENSP00000419988.2:p.Pro1786=
ENST00000478531.6:c.2124A>G	ENSP00000420412.2:p.Pro708=
ENST00000489037.2:c.5358A>G	ENSP00000420781.2:p.Pro1786=
ENST00000493919.6:c.1986A>G	ENSP00000418819.2:p.Pro662=
ENST00000494123.6:c.5436A>G	ENSP00000419103.2:p.Pro1812=
ENST00000497488.2:c.4548A>G	ENSP00000418986.2:p.Pro1516=
ENST00000618469.2:c.5436A>G	ENSP00000478114.2:p.Pro1812=
ENST00000634433.2:c.5313A>G	ENSP00000489431.2:p.Pro1771=
ENST00000644379.2:c.5502A>G	ENSP00000496570.2:p.Pro1834=
ENST00000644555.2:c.1986A>G	ENSP00000494614.2:p.Pro662=
ENST00000652672.2:c.5295A>G	ENSP00000498906.2:p.Pro1765=
ENST00000484087.6:c.1998A>G	ENSP00000419481.2:p.Pro666=
ENST00000700081.1:n.1319A>G
ENST00000700082.1:n.800A>G
ENST00000357654.9:c.5436A>G MANE Select	ENSP00000350283.3:p.Pro1812=
ENST00000471181.7:c.5499A>G	ENSP00000418960.2:p.Pro1833=
ENST00000644379.1:c.1823A>G
ENST00000352993.7:c.2010A>G	ENSP00000312236.5:p.Pro670=
ENST00000357654.7:c.5436A>G	ENSP00000350283.3:p.Pro1812=
ENST00000461221.5:c.*5219A>G	ENSP00000418548.1:n.*5219A>G
ENST00000468300.5:c.2050A>G	ENSP00000417148.1:p.Arg684Gly
ENST00000471181.6:c.5499A>G	ENSP00000418960.2:p.Pro1833=
ENST00000491747.6:c.2124A>G	ENSP00000420705.2:p.Pro708=
ENST00000493795.5:c.5295A>G	ENSP00000418775.1:p.Pro1765=
ENST00000586385.5:c.366A>G	ENSP00000465818.1:p.Pro122=
ENST00000591534.5:c.909A>G	ENSP00000467329.1:p.Pro303=
ENST00000591849.5:c.135A>G	ENSP00000465347.1:p.Pro45=
NM_007294.3:c.5436A>G , LRG_292t1:c.5436A>G	NP_009225.1:p.Pro1812=
NM_007297.3:c.5295A>G	NP_009228.2:p.Pro1765=
NM_007298.3:c.2124A>G	NP_009229.2:p.Pro708=
NM_007299.3:c.2050A>G	NP_009230.2:p.Arg684Gly
NM_007300.3:c.5499A>G	NP_009231.2:p.Pro1833=
NR_027676.1:n.5572A>G
NM_007294.4:c.5436A>G MANE Select	NP_009225.1:p.Pro1812=
NM_007297.4:c.5295A>G	NP_009228.2:p.Pro1765=
NM_007299.4:c.2050A>G	NP_009230.2:p.Arg684Gly
NM_007300.4:c.5499A>G	NP_009231.2:p.Pro1833=
NR_027676.2:n.5613A>G