Canonical Allele Identifier: CA10590505

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825739
• ClinVar RCV Id: RCV001024119 ; RCV001077896
• dbSNP Id: rs1567757864
• COSMIC: COSM1172419
• MyVariant Identifiers: chr17:g.41199680G>C (hg19) ; chr17:g.43047663G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047663G>C , CM000679.2:g.43047663G>C	GRCh38
NC_000017.10:g.41199680G>C , CM000679.1:g.41199680G>C	GRCh37
NC_000017.9:g.38453206G>C	NCBI36
NG_005905.2:g.170321C>G , LRG_292:g.170321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5444C>G	ENSP00000417241.2:p.Thr1815Arg
ENST00000470026.6:c.5447C>G	ENSP00000419274.2:p.Thr1816Arg
ENST00000473961.6:c.5321C>G	ENSP00000420201.2:p.Thr1774Arg
ENST00000476777.6:c.5441C>G	ENSP00000417554.2:p.Thr1814Arg
ENST00000477152.6:c.5369C>G	ENSP00000419988.2:p.Thr1790Arg
ENST00000478531.6:c.2135C>G	ENSP00000420412.2:p.Thr712Arg
ENST00000489037.2:c.5369C>G	ENSP00000420781.2:p.Thr1790Arg
ENST00000493919.6:c.1997C>G	ENSP00000418819.2:p.Thr666Arg
ENST00000494123.6:c.5447C>G	ENSP00000419103.2:p.Thr1816Arg
ENST00000497488.2:c.4559C>G	ENSP00000418986.2:p.Thr1520Arg
ENST00000618469.2:c.5447C>G	ENSP00000478114.2:p.Thr1816Arg
ENST00000634433.2:c.5324C>G	ENSP00000489431.2:p.Thr1775Arg
ENST00000644379.2:c.5513C>G	ENSP00000496570.2:p.Thr1838Arg
ENST00000644555.2:c.1997C>G	ENSP00000494614.2:p.Thr666Arg
ENST00000652672.2:c.5306C>G	ENSP00000498906.2:p.Thr1769Arg
ENST00000484087.6:c.2009C>G	ENSP00000419481.2:p.Thr670Arg
ENST00000700081.1:n.1330C>G
ENST00000700082.1:n.811C>G
ENST00000357654.9:c.5447C>G MANE Select	ENSP00000350283.3:p.Thr1816Arg
ENST00000471181.7:c.5510C>G	ENSP00000418960.2:p.Thr1837Arg
ENST00000644379.1:c.1834C>G
ENST00000352993.7:c.2021C>G	ENSP00000312236.5:p.Thr674Arg
ENST00000357654.7:c.5447C>G	ENSP00000350283.3:p.Thr1816Arg
ENST00000461221.5:c.*5230C>G	ENSP00000418548.1:n.*5230C>G
ENST00000468300.5:c.2061C>G	ENSP00000417148.1:p.Asp687Glu
ENST00000471181.6:c.5510C>G	ENSP00000418960.2:p.Thr1837Arg
ENST00000491747.6:c.2135C>G	ENSP00000420705.2:p.Thr712Arg
ENST00000493795.5:c.5306C>G	ENSP00000418775.1:p.Thr1769Arg
ENST00000586385.5:c.377C>G	ENSP00000465818.1:p.Thr126Arg
ENST00000591534.5:c.920C>G	ENSP00000467329.1:p.Thr307Arg
ENST00000591849.5:c.146C>G	ENSP00000465347.1:p.Thr49Arg
NM_007294.3:c.5447C>G , LRG_292t1:c.5447C>G	NP_009225.1:p.Thr1816Arg
NM_007297.3:c.5306C>G	NP_009228.2:p.Thr1769Arg
NM_007298.3:c.2135C>G	NP_009229.2:p.Thr712Arg
NM_007299.3:c.2061C>G	NP_009230.2:p.Asp687Glu
NM_007300.3:c.5510C>G	NP_009231.2:p.Thr1837Arg
NR_027676.1:n.5583C>G
NM_007294.4:c.5447C>G MANE Select	NP_009225.1:p.Thr1816Arg
NM_007297.4:c.5306C>G	NP_009228.2:p.Thr1769Arg
NM_007299.4:c.2061C>G	NP_009230.2:p.Asp687Glu
NM_007300.4:c.5510C>G	NP_009231.2:p.Thr1837Arg
NR_027676.2:n.5624C>G