Canonical Allele Identifier: CA003187

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55371
• ClinVar RCV Id: RCV001360741 ; RCV003607225
• dbSNP Id: rs397509219
• gnomAD v4: 17-43067611-T-C
• MyVariant Identifiers: chr17:g.41219628T>C (hg19) ; chr17:g.43067611T>C (hg38)
• PubMed: PMID:20858050 ; PMID:22144684 ; PMID:22505045 ; PMID:24504028 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067611T>C , CM000679.2:g.43067611T>C	GRCh38
NC_000017.10:g.41219628T>C , CM000679.1:g.41219628T>C	GRCh37
NC_000017.9:g.38473154T>C	NCBI36
NG_005905.2:g.150373A>G , LRG_292:g.150373A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5068A>G	ENSP00000417241.2:p.Thr1690Ala
ENST00000470026.6:c.5071A>G	ENSP00000419274.2:p.Thr1691Ala
ENST00000473961.6:c.4945A>G	ENSP00000420201.2:p.Thr1649Ala
ENST00000476777.6:c.5065A>G	ENSP00000417554.2:p.Thr1689Ala
ENST00000477152.6:c.4993A>G	ENSP00000419988.2:p.Thr1665Ala
ENST00000478531.6:c.1759A>G	ENSP00000420412.2:p.Thr587Ala
ENST00000489037.2:c.4993A>G	ENSP00000420781.2:p.Thr1665Ala
ENST00000493919.6:c.1621A>G	ENSP00000418819.2:p.Thr541Ala
ENST00000494123.6:c.5071A>G	ENSP00000419103.2:p.Thr1691Ala
ENST00000497488.2:c.4183A>G	ENSP00000418986.2:p.Thr1395Ala
ENST00000618469.2:c.5071A>G	ENSP00000478114.2:p.Thr1691Ala
ENST00000634433.2:c.4948A>G	ENSP00000489431.2:p.Thr1650Ala
ENST00000644379.2:c.5137A>G	ENSP00000496570.2:p.Thr1713Ala
ENST00000644555.2:c.1621A>G	ENSP00000494614.2:p.Thr541Ala
ENST00000652672.2:c.4930A>G	ENSP00000498906.2:p.Thr1644Ala
ENST00000484087.6:c.1633A>G	ENSP00000419481.2:p.Thr545Ala
ENST00000357654.9:c.5071A>G MANE Select	ENSP00000350283.3:p.Thr1691Ala
ENST00000471181.7:c.5134A>G	ENSP00000418960.2:p.Thr1712Ala
ENST00000644379.1:c.1458A>G
ENST00000352993.7:c.1645A>G	ENSP00000312236.5:p.Thr549Ala
ENST00000357654.7:c.5071A>G	ENSP00000350283.3:p.Thr1691Ala
ENST00000461221.5:c.*4854A>G	ENSP00000418548.1:n.*4854A>G
ENST00000468300.5:c.1759A>G	ENSP00000417148.1:p.Thr587Ala
ENST00000471181.6:c.5134A>G	ENSP00000418960.2:p.Thr1712Ala
ENST00000472490.1:n.224A>G
ENST00000478531.5:c.1759A>G	ENSP00000420412.1:p.Thr587Ala
ENST00000484087.5:c.1384A>G	ENSP00000419481.1:p.Thr462Ala
ENST00000491747.6:c.1759A>G	ENSP00000420705.2:p.Thr587Ala
ENST00000493795.5:c.4930A>G	ENSP00000418775.1:p.Thr1644Ala
ENST00000493919.5:c.1621A>G	ENSP00000418819.1:p.Thr541Ala
ENST00000586385.5:c.5-3660A>G	ENSP00000465818.1:n.5-3660A>G
ENST00000591534.5:c.544A>G	ENSP00000467329.1:p.Thr182Ala
ENST00000591849.5:c.-98-17421A>G	ENSP00000465347.1:n.-98-17421A>G
NM_007294.3:c.5071A>G , LRG_292t1:c.5071A>G	NP_009225.1:p.Thr1691Ala
NM_007297.3:c.4930A>G	NP_009228.2:p.Thr1644Ala
NM_007298.3:c.1759A>G	NP_009229.2:p.Thr587Ala
NM_007299.3:c.1759A>G	NP_009230.2:p.Thr587Ala
NM_007300.3:c.5134A>G	NP_009231.2:p.Thr1712Ala
NR_027676.1:n.5207A>G
NM_007294.4:c.5071A>G MANE Select	NP_009225.1:p.Thr1691Ala
NM_007297.4:c.4930A>G	NP_009228.2:p.Thr1644Ala
NM_007299.4:c.1759A>G	NP_009230.2:p.Thr587Ala
NM_007300.4:c.5134A>G	NP_009231.2:p.Thr1712Ala
NR_027676.2:n.5248A>G