Canonical Allele Identifier: CA10590515

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868900
• ClinVar RCV Id: RCV001077891
• dbSNP Id: rs397509284
• gnomAD v4: 17-43047665-C-A
• MyVariant Identifiers: chr17:g.41199682C>A (hg19) ; chr17:g.43047665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047665C>A , CM000679.2:g.43047665C>A	GRCh38
NC_000017.10:g.41199682C>A , CM000679.1:g.41199682C>A	GRCh37
NC_000017.9:g.38453208C>A	NCBI36
NG_005905.2:g.170319G>T , LRG_292:g.170319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5442G>T	ENSP00000417241.2:p.Trp1814Cys
ENST00000470026.6:c.5445G>T	ENSP00000419274.2:p.Trp1815Cys
ENST00000473961.6:c.5319G>T	ENSP00000420201.2:p.Trp1773Cys
ENST00000476777.6:c.5439G>T	ENSP00000417554.2:p.Trp1813Cys
ENST00000477152.6:c.5367G>T	ENSP00000419988.2:p.Trp1789Cys
ENST00000478531.6:c.2133G>T	ENSP00000420412.2:p.Trp711Cys
ENST00000489037.2:c.5367G>T	ENSP00000420781.2:p.Trp1789Cys
ENST00000493919.6:c.1995G>T	ENSP00000418819.2:p.Trp665Cys
ENST00000494123.6:c.5445G>T	ENSP00000419103.2:p.Trp1815Cys
ENST00000497488.2:c.4557G>T	ENSP00000418986.2:p.Trp1519Cys
ENST00000618469.2:c.5445G>T	ENSP00000478114.2:p.Trp1815Cys
ENST00000634433.2:c.5322G>T	ENSP00000489431.2:p.Trp1774Cys
ENST00000644379.2:c.5511G>T	ENSP00000496570.2:p.Trp1837Cys
ENST00000644555.2:c.1995G>T	ENSP00000494614.2:p.Trp665Cys
ENST00000652672.2:c.5304G>T	ENSP00000498906.2:p.Trp1768Cys
ENST00000484087.6:c.2007G>T	ENSP00000419481.2:p.Trp669Cys
ENST00000700081.1:n.1328G>T
ENST00000700082.1:n.809G>T
ENST00000357654.9:c.5445G>T MANE Select	ENSP00000350283.3:p.Trp1815Cys
ENST00000471181.7:c.5508G>T	ENSP00000418960.2:p.Trp1836Cys
ENST00000644379.1:c.1832G>T
ENST00000352993.7:c.2019G>T	ENSP00000312236.5:p.Trp673Cys
ENST00000357654.7:c.5445G>T	ENSP00000350283.3:p.Trp1815Cys
ENST00000461221.5:c.*5228G>T	ENSP00000418548.1:n.*5228G>T
ENST00000468300.5:c.2059G>T	ENSP00000417148.1:p.Asp687Tyr
ENST00000471181.6:c.5508G>T	ENSP00000418960.2:p.Trp1836Cys
ENST00000491747.6:c.2133G>T	ENSP00000420705.2:p.Trp711Cys
ENST00000493795.5:c.5304G>T	ENSP00000418775.1:p.Trp1768Cys
ENST00000586385.5:c.375G>T	ENSP00000465818.1:p.Trp125Cys
ENST00000591534.5:c.918G>T	ENSP00000467329.1:p.Trp306Cys
ENST00000591849.5:c.144G>T	ENSP00000465347.1:p.Trp48Cys
NM_007294.3:c.5445G>T , LRG_292t1:c.5445G>T	NP_009225.1:p.Trp1815Cys
NM_007297.3:c.5304G>T	NP_009228.2:p.Trp1768Cys
NM_007298.3:c.2133G>T	NP_009229.2:p.Trp711Cys
NM_007299.3:c.2059G>T	NP_009230.2:p.Asp687Tyr
NM_007300.3:c.5508G>T	NP_009231.2:p.Trp1836Cys
NR_027676.1:n.5581G>T
NM_007294.4:c.5445G>T MANE Select	NP_009225.1:p.Trp1815Cys
NM_007297.4:c.5304G>T	NP_009228.2:p.Trp1768Cys
NM_007299.4:c.2059G>T	NP_009230.2:p.Asp687Tyr
NM_007300.4:c.5508G>T	NP_009231.2:p.Trp1836Cys
NR_027676.2:n.5622G>T