Canonical Allele Identifier: CA10590451

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865546
• ClinVar RCV Id: RCV001072986 ; RCV002557890
• dbSNP Id: rs2050978714
• gnomAD v4: 17-43047651-C-A
• MyVariant Identifiers: chr17:g.41199668C>A (hg19) ; chr17:g.43047651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047651C>A , CM000679.2:g.43047651C>A	GRCh38
NC_000017.10:g.41199668C>A , CM000679.1:g.41199668C>A	GRCh37
NC_000017.9:g.38453194C>A	NCBI36
NG_005905.2:g.170333G>T , LRG_292:g.170333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5456G>T	ENSP00000417241.2:p.Gly1819Val
ENST00000470026.6:c.5459G>T	ENSP00000419274.2:p.Gly1820Val
ENST00000473961.6:c.5333G>T	ENSP00000420201.2:p.Gly1778Val
ENST00000476777.6:c.5453G>T	ENSP00000417554.2:p.Gly1818Val
ENST00000477152.6:c.5381G>T	ENSP00000419988.2:p.Gly1794Val
ENST00000478531.6:c.2147G>T	ENSP00000420412.2:p.Gly716Val
ENST00000489037.2:c.5381G>T	ENSP00000420781.2:p.Gly1794Val
ENST00000493919.6:c.2009G>T	ENSP00000418819.2:p.Gly670Val
ENST00000494123.6:c.5459G>T	ENSP00000419103.2:p.Gly1820Val
ENST00000497488.2:c.4571G>T	ENSP00000418986.2:p.Gly1524Val
ENST00000618469.2:c.5459G>T	ENSP00000478114.2:p.Gly1820Val
ENST00000634433.2:c.5336G>T	ENSP00000489431.2:p.Gly1779Val
ENST00000644379.2:c.5525G>T	ENSP00000496570.2:p.Gly1842Val
ENST00000644555.2:c.2009G>T	ENSP00000494614.2:p.Gly670Val
ENST00000652672.2:c.5318G>T	ENSP00000498906.2:p.Gly1773Val
ENST00000484087.6:c.2021G>T	ENSP00000419481.2:p.Gly674Val
ENST00000700081.1:n.1342G>T
ENST00000700082.1:n.823G>T
ENST00000357654.9:c.5459G>T MANE Select	ENSP00000350283.3:p.Gly1820Val
ENST00000471181.7:c.5522G>T	ENSP00000418960.2:p.Gly1841Val
ENST00000644379.1:c.1846G>T
ENST00000352993.7:c.2033G>T	ENSP00000312236.5:p.Gly678Val
ENST00000357654.7:c.5459G>T	ENSP00000350283.3:p.Gly1820Val
ENST00000461221.5:c.*5242G>T	ENSP00000418548.1:n.*5242G>T
ENST00000468300.5:c.2073G>T	ENSP00000417148.1:p.Trp691Cys
ENST00000471181.6:c.5522G>T	ENSP00000418960.2:p.Gly1841Val
ENST00000491747.6:c.2147G>T	ENSP00000420705.2:p.Gly716Val
ENST00000493795.5:c.5318G>T	ENSP00000418775.1:p.Gly1773Val
ENST00000586385.5:c.389G>T	ENSP00000465818.1:p.Gly130Val
ENST00000591534.5:c.932G>T	ENSP00000467329.1:p.Gly311Val
ENST00000591849.5:c.158G>T	ENSP00000465347.1:p.Gly53Val
NM_007294.3:c.5459G>T , LRG_292t1:c.5459G>T	NP_009225.1:p.Gly1820Val
NM_007297.3:c.5318G>T	NP_009228.2:p.Gly1773Val
NM_007298.3:c.2147G>T	NP_009229.2:p.Gly716Val
NM_007299.3:c.2073G>T	NP_009230.2:p.Trp691Cys
NM_007300.3:c.5522G>T	NP_009231.2:p.Gly1841Val
NR_027676.1:n.5595G>T
NM_007294.4:c.5459G>T MANE Select	NP_009225.1:p.Gly1820Val
NM_007297.4:c.5318G>T	NP_009228.2:p.Gly1773Val
NM_007299.4:c.2073G>T	NP_009230.2:p.Trp691Cys
NM_007300.4:c.5522G>T	NP_009231.2:p.Gly1841Val
NR_027676.2:n.5636G>T