Canonical Allele Identifier: CA10590382

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868570
• ClinVar RCV Id: RCV001077494
• dbSNP Id: rs2050888423
• gnomAD v4: 17-43045796-C-G
• MyVariant Identifiers: chr17:g.41197813C>G (hg19) ; chr17:g.43045796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045796C>G , CM000679.2:g.43045796C>G	GRCh38
NC_000017.10:g.41197813C>G , CM000679.1:g.41197813C>G	GRCh37
NC_000017.9:g.38451339C>G	NCBI36
NG_005905.2:g.172188G>C , LRG_292:g.172188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5471G>C	ENSP00000417241.2:p.Gly1824Ala
ENST00000470026.6:c.5474G>C	ENSP00000419274.2:p.Gly1825Ala
ENST00000473961.6:c.5348G>C	ENSP00000420201.2:p.Gly1783Ala
ENST00000476777.6:c.5468G>C	ENSP00000417554.2:p.Gly1823Ala
ENST00000477152.6:c.5396G>C	ENSP00000419988.2:p.Gly1799Ala
ENST00000478531.6:c.2162G>C	ENSP00000420412.2:p.Gly721Ala
ENST00000489037.2:c.5396G>C	ENSP00000420781.2:p.Gly1799Ala
ENST00000493919.6:c.2024G>C	ENSP00000418819.2:p.Gly675Ala
ENST00000494123.6:c.5474G>C	ENSP00000419103.2:p.Gly1825Ala
ENST00000497488.2:c.4586G>C	ENSP00000418986.2:p.Gly1529Ala
ENST00000618469.2:c.5474G>C	ENSP00000478114.2:p.Gly1825Ala
ENST00000634433.2:c.5351G>C	ENSP00000489431.2:p.Gly1784Ala
ENST00000644379.2:c.5540G>C	ENSP00000496570.2:p.Gly1847Ala
ENST00000644555.2:c.2024G>C	ENSP00000494614.2:p.Gly675Ala
ENST00000652672.2:c.5333G>C	ENSP00000498906.2:p.Gly1778Ala
ENST00000484087.6:c.2036G>C	ENSP00000419481.2:p.Gly679Ala
ENST00000700081.1:n.1357G>C
ENST00000700082.1:n.838G>C
ENST00000357654.9:c.5474G>C MANE Select	ENSP00000350283.3:p.Gly1825Ala
ENST00000471181.7:c.5537G>C	ENSP00000418960.2:p.Gly1846Ala
ENST00000644379.1:c.1861G>C
ENST00000352993.7:c.2048G>C	ENSP00000312236.5:p.Gly683Ala
ENST00000357654.7:c.5474G>C	ENSP00000350283.3:p.Gly1825Ala
ENST00000461221.5:c.*5257G>C	ENSP00000418548.1:n.*5257G>C
ENST00000468300.5:c.2088G>C	ENSP00000417148.1:p.Trp696Cys
ENST00000471181.6:c.5537G>C	ENSP00000418960.2:p.Gly1846Ala
ENST00000491747.6:c.2162G>C	ENSP00000420705.2:p.Gly721Ala
ENST00000493795.5:c.5333G>C	ENSP00000418775.1:p.Gly1778Ala
ENST00000586385.5:c.404G>C	ENSP00000465818.1:p.Gly135Ala
ENST00000591534.5:c.947G>C	ENSP00000467329.1:p.Gly316Ala
ENST00000591849.5:c.173G>C	ENSP00000465347.1:p.Gly58Ala
NM_007294.3:c.5474G>C , LRG_292t1:c.5474G>C	NP_009225.1:p.Gly1825Ala
NM_007297.3:c.5333G>C	NP_009228.2:p.Gly1778Ala
NM_007298.3:c.2162G>C	NP_009229.2:p.Gly721Ala
NM_007299.3:c.2088G>C	NP_009230.2:p.Trp696Cys
NM_007300.3:c.5537G>C	NP_009231.2:p.Gly1846Ala
NR_027676.1:n.5610G>C
NM_007294.4:c.5474G>C MANE Select	NP_009225.1:p.Gly1825Ala
NM_007297.4:c.5333G>C	NP_009228.2:p.Gly1778Ala
NM_007299.4:c.2088G>C	NP_009230.2:p.Trp696Cys
NM_007300.4:c.5537G>C	NP_009231.2:p.Gly1846Ala
NR_027676.2:n.5651G>C