Canonical Allele Identifier: CA003410

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55490
• ClinVar RCV Id: RCV000257437 ; RCV000774930 ; RCV000657590 ; RCV001385497
• dbSNP Id: rs397509247
• MyVariant Identifiers: chr17:g.41209080G>A (hg19) ; chr17:g.43057063G>A (hg38)
• PubMed: PMID:9150149

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057063G>A , CM000679.2:g.43057063G>A	GRCh38
NC_000017.10:g.41209080G>A , CM000679.1:g.41209080G>A	GRCh37
NC_000017.9:g.38462606G>A	NCBI36
NG_005905.2:g.160921C>T , LRG_292:g.160921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5263C>T	ENSP00000417241.2:p.Gln1755Ter
ENST00000470026.6:c.5266C>T	ENSP00000419274.2:p.Gln1756Ter
ENST00000473961.6:c.5140C>T	ENSP00000420201.2:p.Gln1714Ter
ENST00000476777.6:c.5260C>T	ENSP00000417554.2:p.Gln1754Ter
ENST00000477152.6:c.5188C>T	ENSP00000419988.2:p.Gln1730Ter
ENST00000478531.6:c.1954C>T	ENSP00000420412.2:p.Gln652Ter
ENST00000489037.2:c.5188C>T	ENSP00000420781.2:p.Gln1730Ter
ENST00000493919.6:c.1816C>T	ENSP00000418819.2:p.Gln606Ter
ENST00000494123.6:c.5266C>T	ENSP00000419103.2:p.Gln1756Ter
ENST00000497488.2:c.4378C>T	ENSP00000418986.2:p.Gln1460Ter
ENST00000618469.2:c.5266C>T	ENSP00000478114.2:p.Gln1756Ter
ENST00000634433.2:c.5143C>T	ENSP00000489431.2:p.Gln1715Ter
ENST00000644379.2:c.5332C>T	ENSP00000496570.2:p.Gln1778Ter
ENST00000644555.2:c.1816C>T	ENSP00000494614.2:p.Gln606Ter
ENST00000652672.2:c.5125C>T	ENSP00000498906.2:p.Gln1709Ter
ENST00000484087.6:c.1828C>T	ENSP00000419481.2:p.Gln610Ter
ENST00000357654.9:c.5266C>T MANE Select	ENSP00000350283.3:p.Gln1756Ter
ENST00000471181.7:c.5329C>T	ENSP00000418960.2:p.Gln1777Ter
ENST00000644379.1:c.1653C>T
ENST00000352993.7:c.1840C>T	ENSP00000312236.5:p.Gln614Ter
ENST00000357654.7:c.5266C>T	ENSP00000350283.3:p.Gln1756Ter
ENST00000461221.5:c.*5049C>T	ENSP00000418548.1:n.*5049C>T
ENST00000468300.5:c.1954C>T	ENSP00000417148.1:p.Gln652Ter
ENST00000471181.6:c.5329C>T	ENSP00000418960.2:p.Gln1777Ter
ENST00000491747.6:c.1954C>T	ENSP00000420705.2:p.Gln652Ter
ENST00000493795.5:c.5125C>T	ENSP00000418775.1:p.Gln1709Ter
ENST00000586385.5:c.196C>T	ENSP00000465818.1:p.Gln66Ter
ENST00000591534.5:c.739C>T	ENSP00000467329.1:p.Gln247Ter
ENST00000591849.5:c.-98-6873C>T	ENSP00000465347.1:n.-98-6873C>T
NM_007294.3:c.5266C>T , LRG_292t1:c.5266C>T	NP_009225.1:p.Gln1756Ter
NM_007297.3:c.5125C>T	NP_009228.2:p.Gln1709Ter
NM_007298.3:c.1954C>T	NP_009229.2:p.Gln652Ter
NM_007299.3:c.1954C>T	NP_009230.2:p.Gln652Ter
NM_007300.3:c.5329C>T	NP_009231.2:p.Gln1777Ter
NR_027676.1:n.5402C>T
NM_007294.4:c.5266C>T MANE Select	NP_009225.1:p.Gln1756Ter
NM_007297.4:c.5125C>T	NP_009228.2:p.Gln1709Ter
NM_007299.4:c.1954C>T	NP_009230.2:p.Gln652Ter
NM_007300.4:c.5329C>T	NP_009231.2:p.Gln1777Ter
NR_027676.2:n.5443C>T