Canonical Allele Identifier: CA003174

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55364
• ClinVar RCV Id: RCV000048749 ; RCV000112475 ; RCV000163024 ; RCV000212192
• dbSNP Id: rs80356890
• MyVariant Identifiers: chr17:g.41219646T>C (hg19) ; chr17:g.43067629T>C (hg38)
• PubMed: PMID:15235020 ; PMID:17305420 ; PMID:20516115 ; PMID:21990134 ; PMID:27272900

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067629T>C , CM000679.2:g.43067629T>C	GRCh38
NC_000017.10:g.41219646T>C , CM000679.1:g.41219646T>C	GRCh37
NC_000017.9:g.38473172T>C	NCBI36
NG_005905.2:g.150355A>G , LRG_292:g.150355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5050A>G	ENSP00000417241.2:p.Thr1684Ala
ENST00000470026.6:c.5053A>G	ENSP00000419274.2:p.Thr1685Ala
ENST00000473961.6:c.4927A>G	ENSP00000420201.2:p.Thr1643Ala
ENST00000476777.6:c.5047A>G	ENSP00000417554.2:p.Thr1683Ala
ENST00000477152.6:c.4975A>G	ENSP00000419988.2:p.Thr1659Ala
ENST00000478531.6:c.1741A>G	ENSP00000420412.2:p.Thr581Ala
ENST00000489037.2:c.4975A>G	ENSP00000420781.2:p.Thr1659Ala
ENST00000493919.6:c.1603A>G	ENSP00000418819.2:p.Thr535Ala
ENST00000494123.6:c.5053A>G	ENSP00000419103.2:p.Thr1685Ala
ENST00000497488.2:c.4165A>G	ENSP00000418986.2:p.Thr1389Ala
ENST00000618469.2:c.5053A>G	ENSP00000478114.2:p.Thr1685Ala
ENST00000634433.2:c.4930A>G	ENSP00000489431.2:p.Thr1644Ala
ENST00000644379.2:c.5119A>G	ENSP00000496570.2:p.Thr1707Ala
ENST00000644555.2:c.1603A>G	ENSP00000494614.2:p.Thr535Ala
ENST00000652672.2:c.4912A>G	ENSP00000498906.2:p.Thr1638Ala
ENST00000484087.6:c.1615A>G	ENSP00000419481.2:p.Thr539Ala
ENST00000357654.9:c.5053A>G MANE Select	ENSP00000350283.3:p.Thr1685Ala
ENST00000471181.7:c.5116A>G	ENSP00000418960.2:p.Thr1706Ala
ENST00000644379.1:c.1440A>G
ENST00000352993.7:c.1627A>G	ENSP00000312236.5:p.Thr543Ala
ENST00000357654.7:c.5053A>G	ENSP00000350283.3:p.Thr1685Ala
ENST00000461221.5:c.*4836A>G	ENSP00000418548.1:n.*4836A>G
ENST00000468300.5:c.1741A>G	ENSP00000417148.1:p.Thr581Ala
ENST00000471181.6:c.5116A>G	ENSP00000418960.2:p.Thr1706Ala
ENST00000472490.1:n.206A>G
ENST00000478531.5:c.1741A>G	ENSP00000420412.1:p.Thr581Ala
ENST00000484087.5:c.1366A>G	ENSP00000419481.1:p.Thr456Ala
ENST00000491747.6:c.1741A>G	ENSP00000420705.2:p.Thr581Ala
ENST00000493795.5:c.4912A>G	ENSP00000418775.1:p.Thr1638Ala
ENST00000493919.5:c.1603A>G	ENSP00000418819.1:p.Thr535Ala
ENST00000586385.5:c.5-3678A>G	ENSP00000465818.1:n.5-3678A>G
ENST00000591534.5:c.526A>G	ENSP00000467329.1:p.Thr176Ala
ENST00000591849.5:c.-98-17439A>G	ENSP00000465347.1:n.-98-17439A>G
NM_007294.3:c.5053A>G , LRG_292t1:c.5053A>G	NP_009225.1:p.Thr1685Ala
NM_007297.3:c.4912A>G	NP_009228.2:p.Thr1638Ala
NM_007298.3:c.1741A>G	NP_009229.2:p.Thr581Ala
NM_007299.3:c.1741A>G	NP_009230.2:p.Thr581Ala
NM_007300.3:c.5116A>G	NP_009231.2:p.Thr1706Ala
NR_027676.1:n.5189A>G
NM_007294.4:c.5053A>G MANE Select	NP_009225.1:p.Thr1685Ala
NM_007297.4:c.4912A>G	NP_009228.2:p.Thr1638Ala
NM_007299.4:c.1741A>G	NP_009230.2:p.Thr581Ala
NM_007300.4:c.5116A>G	NP_009231.2:p.Thr1706Ala
NR_027676.2:n.5230A>G