Canonical Allele Identifier: CA003445

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55507
• ClinVar RCV Id: RCV000048910 ; RCV000112603 ; RCV000212199 ; RCV000508603 ; RCV001023867
• dbSNP Id: rs80357007
• gnomAD v4: 17-43051107-C-A
• MyVariant Identifiers: chr17:g.41203124C>A (hg19) ; chr17:g.43051107C>A (hg38)
• PubMed: PMID:16267036 ; PMID:20516115

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051107C>A , CM000679.2:g.43051107C>A	GRCh38
NC_000017.10:g.41203124C>A , CM000679.1:g.41203124C>A	GRCh37
NC_000017.9:g.38456650C>A	NCBI36
NG_005905.2:g.166877G>T , LRG_292:g.166877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5285G>T	ENSP00000417241.2:p.Gly1762Val
ENST00000470026.6:c.5288G>T	ENSP00000419274.2:p.Gly1763Val
ENST00000473961.6:c.5162G>T	ENSP00000420201.2:p.Gly1721Val
ENST00000476777.6:c.5282G>T	ENSP00000417554.2:p.Gly1761Val
ENST00000477152.6:c.5210G>T	ENSP00000419988.2:p.Gly1737Val
ENST00000478531.6:c.1976G>T	ENSP00000420412.2:p.Gly659Val
ENST00000489037.2:c.5210G>T	ENSP00000420781.2:p.Gly1737Val
ENST00000493919.6:c.1838G>T	ENSP00000418819.2:p.Gly613Val
ENST00000494123.6:c.5288G>T	ENSP00000419103.2:p.Gly1763Val
ENST00000497488.2:c.4400G>T	ENSP00000418986.2:p.Gly1467Val
ENST00000618469.2:c.5288G>T	ENSP00000478114.2:p.Gly1763Val
ENST00000634433.2:c.5165G>T	ENSP00000489431.2:p.Gly1722Val
ENST00000644379.2:c.5354G>T	ENSP00000496570.2:p.Gly1785Val
ENST00000644555.2:c.1838G>T	ENSP00000494614.2:p.Gly613Val
ENST00000652672.2:c.5147G>T	ENSP00000498906.2:p.Gly1716Val
ENST00000484087.6:c.1850G>T	ENSP00000419481.2:p.Gly617Val
ENST00000357654.9:c.5288G>T MANE Select	ENSP00000350283.3:p.Gly1763Val
ENST00000471181.7:c.5351G>T	ENSP00000418960.2:p.Gly1784Val
ENST00000644379.1:c.1675G>T
ENST00000352993.7:c.1862G>T	ENSP00000312236.5:p.Gly621Val
ENST00000357654.7:c.5288G>T	ENSP00000350283.3:p.Gly1763Val
ENST00000461221.5:c.*5071G>T	ENSP00000418548.1:n.*5071G>T
ENST00000468300.5:c.1976G>T	ENSP00000417148.1:p.Gly659Val
ENST00000471181.6:c.5351G>T	ENSP00000418960.2:p.Gly1784Val
ENST00000491747.6:c.1976G>T	ENSP00000420705.2:p.Gly659Val
ENST00000493795.5:c.5147G>T	ENSP00000418775.1:p.Gly1716Val
ENST00000586385.5:c.218G>T	ENSP00000465818.1:p.Gly73Val
ENST00000591534.5:c.761G>T	ENSP00000467329.1:p.Gly254Val
ENST00000591849.5:c.-98-917G>T	ENSP00000465347.1:n.-98-917G>T
NM_007294.3:c.5288G>T , LRG_292t1:c.5288G>T	NP_009225.1:p.Gly1763Val
NM_007297.3:c.5147G>T	NP_009228.2:p.Gly1716Val
NM_007298.3:c.1976G>T	NP_009229.2:p.Gly659Val
NM_007299.3:c.1976G>T	NP_009230.2:p.Gly659Val
NM_007300.3:c.5351G>T	NP_009231.2:p.Gly1784Val
NR_027676.1:n.5424G>T
NM_007294.4:c.5288G>T MANE Select	NP_009225.1:p.Gly1763Val
NM_007297.4:c.5147G>T	NP_009228.2:p.Gly1716Val
NM_007299.4:c.1976G>T	NP_009230.2:p.Gly659Val
NM_007300.4:c.5351G>T	NP_009231.2:p.Gly1784Val
NR_027676.2:n.5465G>T