Canonical Allele Identifier: CA10590294

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 421244
• ClinVar RCV Id: RCV000483084 ; RCV001078019 ; RCV001184314 ; RCV001254336
• dbSNP Id: rs80356914
• gnomAD v4: 17-43045759-C-G
• MyVariant Identifiers: chr17:g.41197776C>G (hg19) ; chr17:g.43045759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045759C>G , CM000679.2:g.43045759C>G	GRCh38
NC_000017.10:g.41197776C>G , CM000679.1:g.41197776C>G	GRCh37
NC_000017.9:g.38451302C>G	NCBI36
NG_005905.2:g.172225G>C , LRG_292:g.172225G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5508G>C	ENSP00000417241.2:p.Trp1836Cys
ENST00000470026.6:c.5511G>C	ENSP00000419274.2:p.Trp1837Cys
ENST00000473961.6:c.5385G>C	ENSP00000420201.2:p.Trp1795Cys
ENST00000476777.6:c.5505G>C	ENSP00000417554.2:p.Trp1835Cys
ENST00000477152.6:c.5433G>C	ENSP00000419988.2:p.Trp1811Cys
ENST00000478531.6:c.2199G>C	ENSP00000420412.2:p.Trp733Cys
ENST00000489037.2:c.5433G>C	ENSP00000420781.2:p.Trp1811Cys
ENST00000493919.6:c.2061G>C	ENSP00000418819.2:p.Trp687Cys
ENST00000494123.6:c.5511G>C	ENSP00000419103.2:p.Trp1837Cys
ENST00000497488.2:c.4623G>C	ENSP00000418986.2:p.Trp1541Cys
ENST00000618469.2:c.5511G>C	ENSP00000478114.2:p.Trp1837Cys
ENST00000634433.2:c.5388G>C	ENSP00000489431.2:p.Trp1796Cys
ENST00000644379.2:c.5577G>C	ENSP00000496570.2:p.Trp1859Cys
ENST00000644555.2:c.2061G>C	ENSP00000494614.2:p.Trp687Cys
ENST00000652672.2:c.5370G>C	ENSP00000498906.2:p.Trp1790Cys
ENST00000484087.6:c.2073G>C	ENSP00000419481.2:p.Trp691Cys
ENST00000700081.1:n.1394G>C
ENST00000700082.1:n.875G>C
ENST00000357654.9:c.5511G>C MANE Select	ENSP00000350283.3:p.Trp1837Cys
ENST00000471181.7:c.5574G>C	ENSP00000418960.2:p.Trp1858Cys
ENST00000644379.1:c.1898G>C
ENST00000352993.7:c.2085G>C	ENSP00000312236.5:p.Trp695Cys
ENST00000357654.7:c.5511G>C	ENSP00000350283.3:p.Trp1837Cys
ENST00000461221.5:c.*5294G>C	ENSP00000418548.1:n.*5294G>C
ENST00000468300.5:c.*25G>C	ENSP00000417148.1:n.*25G>C
ENST00000471181.6:c.5574G>C	ENSP00000418960.2:p.Trp1858Cys
ENST00000491747.6:c.2199G>C	ENSP00000420705.2:p.Trp733Cys
ENST00000493795.5:c.5370G>C	ENSP00000418775.1:p.Trp1790Cys
ENST00000586385.5:c.441G>C	ENSP00000465818.1:p.Trp147Cys
ENST00000591534.5:c.984G>C	ENSP00000467329.1:p.Trp328Cys
ENST00000591849.5:c.210G>C	ENSP00000465347.1:p.Trp70Cys
NM_007294.3:c.5511G>C , LRG_292t1:c.5511G>C	NP_009225.1:p.Trp1837Cys
NM_007297.3:c.5370G>C	NP_009228.2:p.Trp1790Cys
NM_007298.3:c.2199G>C	NP_009229.2:p.Trp733Cys
NM_007299.3:c.*25G>C	NP_009230.2:n.*25G>C
NM_007300.3:c.5574G>C	NP_009231.2:p.Trp1858Cys
NR_027676.1:n.5647G>C
NM_007294.4:c.5511G>C MANE Select	NP_009225.1:p.Trp1837Cys
NM_007297.4:c.5370G>C	NP_009228.2:p.Trp1790Cys
NM_007299.4:c.*25G>C	NP_009230.2:n.*25G>C
NM_007300.4:c.5574G>C	NP_009231.2:p.Trp1858Cys
NR_027676.2:n.5688G>C