Canonical Allele Identifier: CA10590655

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 651964
• ClinVar RCV Id: RCV000807420 ; RCV001077366 ; RCV001178400
• dbSNP Id: rs876659510
• gnomAD v4: 17-43047703-C-A
• MyVariant Identifiers: chr17:g.41199720C>A (hg19) ; chr17:g.43047703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047703C>A , CM000679.2:g.43047703C>A	GRCh38
NC_000017.10:g.41199720C>A , CM000679.1:g.41199720C>A	GRCh37
NC_000017.9:g.38453246C>A	NCBI36
NG_005905.2:g.170281G>T , LRG_292:g.170281G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5404G>T	ENSP00000417241.2:p.Gly1802Cys
ENST00000470026.6:c.5407G>T	ENSP00000419274.2:p.Gly1803Cys
ENST00000473961.6:c.5281G>T	ENSP00000420201.2:p.Gly1761Cys
ENST00000476777.6:c.5401G>T	ENSP00000417554.2:p.Gly1801Cys
ENST00000477152.6:c.5329G>T	ENSP00000419988.2:p.Gly1777Cys
ENST00000478531.6:c.2095G>T	ENSP00000420412.2:p.Gly699Cys
ENST00000489037.2:c.5329G>T	ENSP00000420781.2:p.Gly1777Cys
ENST00000493919.6:c.1957G>T	ENSP00000418819.2:p.Gly653Cys
ENST00000494123.6:c.5407G>T	ENSP00000419103.2:p.Gly1803Cys
ENST00000497488.2:c.4519G>T	ENSP00000418986.2:p.Gly1507Cys
ENST00000618469.2:c.5407G>T	ENSP00000478114.2:p.Gly1803Cys
ENST00000634433.2:c.5284G>T	ENSP00000489431.2:p.Gly1762Cys
ENST00000644379.2:c.5473G>T	ENSP00000496570.2:p.Gly1825Cys
ENST00000644555.2:c.1957G>T	ENSP00000494614.2:p.Gly653Cys
ENST00000652672.2:c.5266G>T	ENSP00000498906.2:p.Gly1756Cys
ENST00000484087.6:c.1969G>T	ENSP00000419481.2:p.Gly657Cys
ENST00000700081.1:n.1290G>T
ENST00000700082.1:n.771G>T
ENST00000357654.9:c.5407G>T MANE Select	ENSP00000350283.3:p.Gly1803Cys
ENST00000471181.7:c.5470G>T	ENSP00000418960.2:p.Gly1824Cys
ENST00000644379.1:c.1794G>T
ENST00000352993.7:c.1981G>T	ENSP00000312236.5:p.Gly661Cys
ENST00000357654.7:c.5407G>T	ENSP00000350283.3:p.Gly1803Cys
ENST00000461221.5:c.*5190G>T	ENSP00000418548.1:n.*5190G>T
ENST00000468300.5:c.2021G>T	ENSP00000417148.1:p.Gly674Val
ENST00000471181.6:c.5470G>T	ENSP00000418960.2:p.Gly1824Cys
ENST00000491747.6:c.2095G>T	ENSP00000420705.2:p.Gly699Cys
ENST00000493795.5:c.5266G>T	ENSP00000418775.1:p.Gly1756Cys
ENST00000586385.5:c.337G>T	ENSP00000465818.1:p.Gly113Cys
ENST00000591534.5:c.880G>T	ENSP00000467329.1:p.Gly294Cys
ENST00000591849.5:c.106G>T	ENSP00000465347.1:p.Gly36Cys
NM_007294.3:c.5407G>T , LRG_292t1:c.5407G>T	NP_009225.1:p.Gly1803Cys
NM_007297.3:c.5266G>T	NP_009228.2:p.Gly1756Cys
NM_007298.3:c.2095G>T	NP_009229.2:p.Gly699Cys
NM_007299.3:c.2021G>T	NP_009230.2:p.Gly674Val
NM_007300.3:c.5470G>T	NP_009231.2:p.Gly1824Cys
NR_027676.1:n.5543G>T
NM_007294.4:c.5407G>T MANE Select	NP_009225.1:p.Gly1803Cys
NM_007297.4:c.5266G>T	NP_009228.2:p.Gly1756Cys
NM_007299.4:c.2021G>T	NP_009230.2:p.Gly674Val
NM_007300.4:c.5470G>T	NP_009231.2:p.Gly1824Cys
NR_027676.2:n.5584G>T