Canonical Allele Identifier: CA003066
Community Standard Title: NM_007294.4(BRCA1):c.4891A>T (p.Ser1631Cys)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071023T>A , CM000679.2:g.43071023T>A GRCh38
NC_000017.10:g.41223040T>A , CM000679.1:g.41223040T>A GRCh37
NC_000017.9:g.38476566T>A NCBI36
NG_005905.2:g.146961A>T , LRG_292:g.146961A>T

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.4891A>T MANE Select NP_009225.1:p.Ser1631Cys
ENST00000357654.9:c.4891A>T MANE Select ENSP00000350283.3:p.Ser1631Cys
NM_007294.3:c.4891A>T , LRG_292t1:c.4891A>T NP_009225.1:p.Ser1631Cys
NM_007297.3:c.4750A>T NP_009228.2:p.Ser1584Cys
NM_007297.4:c.4750A>T NP_009228.2:p.Ser1584Cys
NM_007298.3:c.1579A>T NP_009229.2:p.Ser527Cys
NM_007299.3:c.1579A>T NP_009230.2:p.Ser527Cys
NM_007299.4:c.1579A>T NP_009230.2:p.Ser527Cys
NM_007300.3:c.4954A>T NP_009231.2:p.Ser1652Cys
NM_007300.4:c.4954A>T NP_009231.2:p.Ser1652Cys
NR_027676.1:n.5027A>T
NR_027676.2:n.5068A>T
ENST00000352993.7:c.1465A>T ENSP00000312236.5:p.Ser489Cys
ENST00000357654.7:c.4891A>T ENSP00000350283.3:p.Ser1631Cys
ENST00000461221.5:c.*4674A>T ENSP00000418548.1:n.*4674A>T
ENST00000461574.2:c.4888A>T ENSP00000417241.2:p.Ser1630Cys
ENST00000468300.5:c.1579A>T ENSP00000417148.1:p.Ser527Cys
ENST00000470026.6:c.4891A>T ENSP00000419274.2:p.Ser1631Cys
ENST00000471181.6:c.4954A>T ENSP00000418960.2:p.Ser1652Cys
ENST00000471181.7:c.4954A>T ENSP00000418960.2:p.Ser1652Cys
ENST00000472490.1:n.44A>T
ENST00000473961.6:c.4765A>T ENSP00000420201.2:p.Ser1589Cys
ENST00000476777.6:c.4885A>T ENSP00000417554.2:p.Ser1629Cys
ENST00000477152.6:c.4813A>T ENSP00000419988.2:p.Ser1605Cys
ENST00000478531.5:c.1579A>T ENSP00000420412.1:p.Ser527Cys
ENST00000478531.6:c.1579A>T ENSP00000420412.2:p.Ser527Cys
ENST00000484087.5:c.1204A>T ENSP00000419481.1:p.Ser402Cys
ENST00000484087.6:c.1453A>T ENSP00000419481.2:p.Ser485Cys
ENST00000489037.2:c.4813A>T ENSP00000420781.2:p.Ser1605Cys
ENST00000491747.6:c.1579A>T ENSP00000420705.2:p.Ser527Cys
ENST00000493795.5:c.4750A>T ENSP00000418775.1:p.Ser1584Cys
ENST00000493919.5:c.1441A>T ENSP00000418819.1:p.Ser481Cys
ENST00000493919.6:c.1441A>T ENSP00000418819.2:p.Ser481Cys
ENST00000494123.6:c.4891A>T ENSP00000419103.2:p.Ser1631Cys
ENST00000497488.2:c.4003A>T ENSP00000418986.2:p.Ser1335Cys
ENST00000586385.5:c.5-7072A>T ENSP00000465818.1:n.5-7072A>T
ENST00000591534.5:c.364A>T ENSP00000467329.1:p.Ser122Cys
ENST00000591849.5:c.-98-20833A>T ENSP00000465347.1:n.-98-20833A>T
ENST00000618469.2:c.4891A>T ENSP00000478114.2:p.Ser1631Cys
ENST00000634433.2:c.4768A>T ENSP00000489431.2:p.Ser1590Cys
ENST00000644379.1:c.1278A>T
ENST00000644379.2:c.4957A>T ENSP00000496570.2:p.Ser1653Cys
ENST00000644555.2:c.1441A>T ENSP00000494614.2:p.Ser481Cys
ENST00000652672.2:c.4750A>T ENSP00000498906.2:p.Ser1584Cys
ENST00000700182.1:c.1498A>T ENSP00000514849.1:p.Ser500Cys