Canonical Allele Identifier: CA002609
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185881
ClinVar RCV Id: RCV000165381 RCV001297657 RCV001770128 RCV003330523
dbSNP Id: rs80357218
gnomAD v4: 17-43091450-T-C
MyVariant Identifiers: chr17:g.41243467T>C (hg19) chr17:g.43091450T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091450T>C , CM000679.2:g.43091450T>C GRCh38
NC_000017.10:g.41243467T>C , CM000679.1:g.41243467T>C GRCh37
NC_000017.9:g.38496993T>C NCBI36
NG_005905.2:g.126534A>G , LRG_292:g.126534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4145A>G
ENST00000461574.2:c.4081A>G ENSP00000417241.2:p.Met1361Val
ENST00000470026.6:c.4081A>G ENSP00000419274.2:p.Met1361Val
ENST00000473961.6:c.3955A>G ENSP00000420201.2:p.Met1319Val
ENST00000476777.6:c.4078A>G ENSP00000417554.2:p.Met1360Val
ENST00000477152.6:c.4003A>G ENSP00000419988.2:p.Met1335Val
ENST00000478531.6:c.785-418A>G ENSP00000420412.2:n.785-418A>G
ENST00000489037.2:c.4003A>G ENSP00000420781.2:p.Met1335Val
ENST00000493919.6:c.647-418A>G ENSP00000418819.2:n.647-418A>G
ENST00000494123.6:c.4081A>G ENSP00000419103.2:p.Met1361Val
ENST00000497488.2:c.3193A>G ENSP00000418986.2:p.Met1065Val
ENST00000618469.2:c.4081A>G ENSP00000478114.2:p.Met1361Val
ENST00000634433.2:c.3958A>G ENSP00000489431.2:p.Met1320Val
ENST00000644379.2:c.4081A>G ENSP00000496570.2:p.Met1361Val
ENST00000644555.2:c.647-418A>G ENSP00000494614.2:n.647-418A>G
ENST00000652672.2:c.3940A>G ENSP00000498906.2:p.Met1314Val
ENST00000484087.6:c.665-418A>G ENSP00000419481.2:n.665-418A>G
ENST00000700182.1:c.707-418A>G ENSP00000514849.1:n.707-418A>G
ENST00000357654.9:c.4081A>G MANE Select ENSP00000350283.3:p.Met1361Val
ENST00000471181.7:c.4081A>G ENSP00000418960.2:p.Met1361Val
ENST00000644379.1:c.402A>G
ENST00000352993.7:c.671-418A>G ENSP00000312236.5:n.671-418A>G
ENST00000354071.7:c.4081A>G ENSP00000326002.7:p.Met1361Val
ENST00000357654.7:c.4081A>G ENSP00000350283.3:p.Met1361Val
ENST00000461221.5:c.*3864A>G ENSP00000418548.1:n.*3864A>G
ENST00000461574.1:c.375A>G
ENST00000468300.5:c.788-418A>G ENSP00000417148.1:n.788-418A>G
ENST00000471181.6:c.4081A>G ENSP00000418960.2:p.Met1361Val
ENST00000478531.5:c.785-418A>G ENSP00000420412.1:n.785-418A>G
ENST00000484087.5:c.410-418A>G ENSP00000419481.1:n.410-418A>G
ENST00000487825.5:c.413-418A>G ENSP00000418212.1:n.413-418A>G
ENST00000491747.6:c.788-418A>G ENSP00000420705.2:n.788-418A>G
ENST00000493795.5:c.3940A>G ENSP00000418775.1:p.Met1314Val
ENST00000493919.5:c.647-418A>G ENSP00000418819.1:n.647-418A>G
ENST00000586385.5:c.5-27499A>G ENSP00000465818.1:n.5-27499A>G
ENST00000591534.5:c.-43-16929A>G ENSP00000467329.1:n.-43-16929A>G
ENST00000591849.5:c.-99+33821A>G ENSP00000465347.1:n.-99+33821A>G
NM_007294.3:c.4081A>G , LRG_292t1:c.4081A>G NP_009225.1:p.Met1361Val
NM_007297.3:c.3940A>G NP_009228.2:p.Met1314Val
NM_007298.3:c.788-418A>G NP_009229.2:n.788-418A>G
NM_007299.3:c.788-418A>G NP_009230.2:n.788-418A>G
NM_007300.3:c.4081A>G NP_009231.2:p.Met1361Val
NR_027676.1:n.4217A>G
NM_007294.4:c.4081A>G MANE Select NP_009225.1:p.Met1361Val
NM_007297.4:c.3940A>G NP_009228.2:p.Met1314Val
NM_007299.4:c.788-418A>G NP_009230.2:n.788-418A>G
NM_007300.4:c.4081A>G NP_009231.2:p.Met1361Val
NR_027676.2:n.4258A>G
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