Canonical Allele Identifier: CA002884

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55216
• ClinVar RCV Id: RCV000112348 ; RCV000496228 ; RCV000735507
• dbSNP Id: rs80356953
• MyVariant Identifiers: chr17:g.41226536G>C (hg19) ; chr17:g.43074519G>C (hg38)
• PubMed: PMID:12698193

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074519G>C , CM000679.2:g.43074519G>C	GRCh38
NC_000017.10:g.41226536G>C , CM000679.1:g.41226536G>C	GRCh37
NC_000017.9:g.38480062G>C	NCBI36
NG_005905.2:g.143465C>G , LRG_292:g.143465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4484C>G	ENSP00000417241.2:p.Ser1495Ter
ENST00000470026.6:c.4487C>G	ENSP00000419274.2:p.Ser1496Ter
ENST00000473961.6:c.4361C>G	ENSP00000420201.2:p.Ser1454Ter
ENST00000476777.6:c.4481C>G	ENSP00000417554.2:p.Ser1494Ter
ENST00000477152.6:c.4409C>G	ENSP00000419988.2:p.Ser1470Ter
ENST00000478531.6:c.1175C>G	ENSP00000420412.2:p.Ser392Ter
ENST00000489037.2:c.4409C>G	ENSP00000420781.2:p.Ser1470Ter
ENST00000493919.6:c.1037C>G	ENSP00000418819.2:p.Ser346Ter
ENST00000494123.6:c.4487C>G	ENSP00000419103.2:p.Ser1496Ter
ENST00000497488.2:c.3599C>G	ENSP00000418986.2:p.Ser1200Ter
ENST00000618469.2:c.4487C>G	ENSP00000478114.2:p.Ser1496Ter
ENST00000634433.2:c.4364C>G	ENSP00000489431.2:p.Ser1455Ter
ENST00000644379.2:c.4553C>G	ENSP00000496570.2:p.Ser1518Ter
ENST00000644555.2:c.1037C>G	ENSP00000494614.2:p.Ser346Ter
ENST00000652672.2:c.4346C>G	ENSP00000498906.2:p.Ser1449Ter
ENST00000484087.6:c.1049C>G	ENSP00000419481.2:p.Ser350Ter
ENST00000700182.1:c.1094C>G	ENSP00000514849.1:p.Ser365Ter
ENST00000357654.9:c.4487C>G MANE Select	ENSP00000350283.3:p.Ser1496Ter
ENST00000471181.7:c.4550C>G	ENSP00000418960.2:p.Ser1517Ter
ENST00000644379.1:c.874C>G
ENST00000352993.7:c.1061C>G	ENSP00000312236.5:p.Ser354Ter
ENST00000357654.7:c.4487C>G	ENSP00000350283.3:p.Ser1496Ter
ENST00000461221.5:c.*4270C>G	ENSP00000418548.1:n.*4270C>G
ENST00000468300.5:c.1175C>G	ENSP00000417148.1:p.Ser392Ter
ENST00000471181.6:c.4550C>G	ENSP00000418960.2:p.Ser1517Ter
ENST00000478531.5:c.1175C>G	ENSP00000420412.1:p.Ser392Ter
ENST00000484087.5:c.800C>G	ENSP00000419481.1:p.Ser267Ter
ENST00000491747.6:c.1175C>G	ENSP00000420705.2:p.Ser392Ter
ENST00000493795.5:c.4346C>G	ENSP00000418775.1:p.Ser1449Ter
ENST00000493919.5:c.1037C>G	ENSP00000418819.1:p.Ser346Ter
ENST00000586385.5:c.5-10568C>G	ENSP00000465818.1:n.5-10568C>G
ENST00000591534.5:c.-41C>G	ENSP00000467329.1:n.-41C>G
ENST00000591849.5:c.-98-24329C>G	ENSP00000465347.1:n.-98-24329C>G
NM_007294.3:c.4487C>G , LRG_292t1:c.4487C>G	NP_009225.1:p.Ser1496Ter
NM_007297.3:c.4346C>G	NP_009228.2:p.Ser1449Ter
NM_007298.3:c.1175C>G	NP_009229.2:p.Ser392Ter
NM_007299.3:c.1175C>G	NP_009230.2:p.Ser392Ter
NM_007300.3:c.4550C>G	NP_009231.2:p.Ser1517Ter
NR_027676.1:n.4623C>G
NM_007294.4:c.4487C>G MANE Select	NP_009225.1:p.Ser1496Ter
NM_007297.4:c.4346C>G	NP_009228.2:p.Ser1449Ter
NM_007299.4:c.1175C>G	NP_009230.2:p.Ser392Ter
NM_007300.4:c.4550C>G	NP_009231.2:p.Ser1517Ter
NR_027676.2:n.4664C>G