Canonical Allele Identifier: CA002964

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37605
• ClinVar RCV Id: RCV000031186 ; RCV000131825 ; RCV001379224 ; RCV001811228
• dbSNP Id: rs80356988
• MyVariant Identifiers: chr17:g.41226348C>G (hg19) ; chr17:g.43074331C>G (hg38)
• PubMed: PMID:15235020 ; PMID:28905878

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074331C>G , CM000679.2:g.43074331C>G	GRCh38
NC_000017.10:g.41226348C>G , CM000679.1:g.41226348C>G	GRCh37
NC_000017.9:g.38479874C>G	NCBI36
NG_005905.2:g.143653G>C , LRG_292:g.143653G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4672G>C	ENSP00000417241.2:p.Glu1558Gln
ENST00000470026.6:c.4675G>C	ENSP00000419274.2:p.Glu1559Gln
ENST00000473961.6:c.4549G>C	ENSP00000420201.2:p.Glu1517Gln
ENST00000476777.6:c.4669G>C	ENSP00000417554.2:p.Glu1557Gln
ENST00000477152.6:c.4597G>C	ENSP00000419988.2:p.Glu1533Gln
ENST00000478531.6:c.1363G>C	ENSP00000420412.2:p.Glu455Gln
ENST00000489037.2:c.4597G>C	ENSP00000420781.2:p.Glu1533Gln
ENST00000493919.6:c.1225G>C	ENSP00000418819.2:p.Glu409Gln
ENST00000494123.6:c.4675G>C	ENSP00000419103.2:p.Glu1559Gln
ENST00000497488.2:c.3787G>C	ENSP00000418986.2:p.Glu1263Gln
ENST00000618469.2:c.4675G>C	ENSP00000478114.2:p.Glu1559Gln
ENST00000634433.2:c.4552G>C	ENSP00000489431.2:p.Glu1518Gln
ENST00000644379.2:c.4741G>C	ENSP00000496570.2:p.Glu1581Gln
ENST00000644555.2:c.1225G>C	ENSP00000494614.2:p.Glu409Gln
ENST00000652672.2:c.4534G>C	ENSP00000498906.2:p.Glu1512Gln
ENST00000484087.6:c.1237G>C	ENSP00000419481.2:p.Glu413Gln
ENST00000700182.1:c.1282G>C	ENSP00000514849.1:p.Glu428Gln
ENST00000357654.9:c.4675G>C MANE Select	ENSP00000350283.3:p.Glu1559Gln
ENST00000471181.7:c.4738G>C	ENSP00000418960.2:p.Glu1580Gln
ENST00000644379.1:c.1062G>C
ENST00000352993.7:c.1249G>C	ENSP00000312236.5:p.Glu417Gln
ENST00000357654.7:c.4675G>C	ENSP00000350283.3:p.Glu1559Gln
ENST00000461221.5:c.*4458G>C	ENSP00000418548.1:n.*4458G>C
ENST00000468300.5:c.1363G>C	ENSP00000417148.1:p.Glu455Gln
ENST00000471181.6:c.4738G>C	ENSP00000418960.2:p.Glu1580Gln
ENST00000478531.5:c.1363G>C	ENSP00000420412.1:p.Glu455Gln
ENST00000484087.5:c.988G>C	ENSP00000419481.1:p.Glu330Gln
ENST00000491747.6:c.1363G>C	ENSP00000420705.2:p.Glu455Gln
ENST00000493795.5:c.4534G>C	ENSP00000418775.1:p.Glu1512Gln
ENST00000493919.5:c.1225G>C	ENSP00000418819.1:p.Glu409Gln
ENST00000586385.5:c.5-10380G>C	ENSP00000465818.1:n.5-10380G>C
ENST00000591534.5:c.148G>C	ENSP00000467329.1:p.Glu50Gln
ENST00000591849.5:c.-98-24141G>C	ENSP00000465347.1:n.-98-24141G>C
NM_007294.3:c.4675G>C , LRG_292t1:c.4675G>C	NP_009225.1:p.Glu1559Gln
NM_007297.3:c.4534G>C	NP_009228.2:p.Glu1512Gln
NM_007298.3:c.1363G>C	NP_009229.2:p.Glu455Gln
NM_007299.3:c.1363G>C	NP_009230.2:p.Glu455Gln
NM_007300.3:c.4738G>C	NP_009231.2:p.Glu1580Gln
NR_027676.1:n.4811G>C
NM_007294.4:c.4675G>C MANE Select	NP_009225.1:p.Glu1559Gln
NM_007297.4:c.4534G>C	NP_009228.2:p.Glu1512Gln
NM_007299.4:c.1363G>C	NP_009230.2:p.Glu455Gln
NM_007300.4:c.4738G>C	NP_009231.2:p.Glu1580Gln
NR_027676.2:n.4852G>C