Canonical Allele Identifier: CA338563

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 216675
• ClinVar RCV Id: RCV000199320 ; RCV001023894 ; RCV001076781
• dbSNP Id: rs863224765
• MyVariant Identifiers: chr17:g.41203103C>G (hg19) ; chr17:g.43051086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051086C>G , CM000679.2:g.43051086C>G	GRCh38
NC_000017.10:g.41203103C>G , CM000679.1:g.41203103C>G	GRCh37
NC_000017.9:g.38456629C>G	NCBI36
NG_005905.2:g.166898G>C , LRG_292:g.166898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5306G>C	ENSP00000417241.2:p.Gly1769Ala
ENST00000470026.6:c.5309G>C	ENSP00000419274.2:p.Gly1770Ala
ENST00000473961.6:c.5183G>C	ENSP00000420201.2:p.Gly1728Ala
ENST00000476777.6:c.5303G>C	ENSP00000417554.2:p.Gly1768Ala
ENST00000477152.6:c.5231G>C	ENSP00000419988.2:p.Gly1744Ala
ENST00000478531.6:c.1997G>C	ENSP00000420412.2:p.Gly666Ala
ENST00000489037.2:c.5231G>C	ENSP00000420781.2:p.Gly1744Ala
ENST00000493919.6:c.1859G>C	ENSP00000418819.2:p.Gly620Ala
ENST00000494123.6:c.5309G>C	ENSP00000419103.2:p.Gly1770Ala
ENST00000497488.2:c.4421G>C	ENSP00000418986.2:p.Gly1474Ala
ENST00000618469.2:c.5309G>C	ENSP00000478114.2:p.Gly1770Ala
ENST00000634433.2:c.5186G>C	ENSP00000489431.2:p.Gly1729Ala
ENST00000644379.2:c.5375G>C	ENSP00000496570.2:p.Gly1792Ala
ENST00000644555.2:c.1859G>C	ENSP00000494614.2:p.Gly620Ala
ENST00000652672.2:c.5168G>C	ENSP00000498906.2:p.Gly1723Ala
ENST00000484087.6:c.1871G>C	ENSP00000419481.2:p.Gly624Ala
ENST00000357654.9:c.5309G>C MANE Select	ENSP00000350283.3:p.Gly1770Ala
ENST00000471181.7:c.5372G>C	ENSP00000418960.2:p.Gly1791Ala
ENST00000644379.1:c.1696G>C
ENST00000352993.7:c.1883G>C	ENSP00000312236.5:p.Gly628Ala
ENST00000357654.7:c.5309G>C	ENSP00000350283.3:p.Gly1770Ala
ENST00000461221.5:c.*5092G>C	ENSP00000418548.1:n.*5092G>C
ENST00000468300.5:c.1997G>C	ENSP00000417148.1:p.Gly666Ala
ENST00000471181.6:c.5372G>C	ENSP00000418960.2:p.Gly1791Ala
ENST00000491747.6:c.1997G>C	ENSP00000420705.2:p.Gly666Ala
ENST00000493795.5:c.5168G>C	ENSP00000418775.1:p.Gly1723Ala
ENST00000586385.5:c.239G>C	ENSP00000465818.1:p.Gly80Ala
ENST00000591534.5:c.782G>C	ENSP00000467329.1:p.Gly261Ala
ENST00000591849.5:c.-98-896G>C	ENSP00000465347.1:n.-98-896G>C
NM_007294.3:c.5309G>C , LRG_292t1:c.5309G>C	NP_009225.1:p.Gly1770Ala
NM_007297.3:c.5168G>C	NP_009228.2:p.Gly1723Ala
NM_007298.3:c.1997G>C	NP_009229.2:p.Gly666Ala
NM_007299.3:c.1997G>C	NP_009230.2:p.Gly666Ala
NM_007300.3:c.5372G>C	NP_009231.2:p.Gly1791Ala
NR_027676.1:n.5445G>C
NM_007294.4:c.5309G>C MANE Select	NP_009225.1:p.Gly1770Ala
NM_007297.4:c.5168G>C	NP_009228.2:p.Gly1723Ala
NM_007299.4:c.1997G>C	NP_009230.2:p.Gly666Ala
NM_007300.4:c.5372G>C	NP_009231.2:p.Gly1791Ala
NR_027676.2:n.5486G>C