LDH info

Canonical Allele Identifier: CA10594470
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091780A>T , CM000679.2:g.43091780A>T GRCh38
NC_000017.10:g.41243797A>T , CM000679.1:g.41243797A>T GRCh37
NC_000017.9:g.38497323A>T NCBI36
NG_005905.2:g.126204T>A , LRG_292:g.126204T>A

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3751T>A , LRG_292t1:c.3751T>A NP_009225.1:p.Cys1251Ser
NM_007297.3:c.3610T>A VV NP_009228.2:p.Cys1204Ser
NM_007298.3:c.788-748T>A VV NP_009229.2:p.=
NM_007299.3:c.788-748T>A VV NP_009230.2:p.=
NM_007300.3:c.3751T>A VV NP_009231.2:p.Cys1251Ser
NR_027676.1:n.3887T>A
NM_007294.4:c.3751T>A VV MANE Preferred NP_009225.1:p.Cys1251Ser
NM_007297.4:c.3610T>A VV NP_009228.2:p.Cys1204Ser
NM_007299.4:c.788-748T>A VV NP_009230.2:p.=
NM_007300.4:c.3751T>A VV NP_009231.2:p.Cys1251Ser
NR_027676.2:n.3928T>A
ENST00000352993.7:c.671-748T>A ENSP00000312236.5:p.=
ENST00000354071.7:c.3751T>A ENSP00000326002.7:p.Cys1251Ser
ENST00000357654.7:c.3751T>A ENSP00000350283.3:p.Cys1251Ser
ENST00000461221.5:c.*3534T>A ENSP00000418548.1:p.=
ENST00000461574.1:n.45T>A
ENST00000468300.5:c.788-748T>A ENSP00000417148.1:p.=
ENST00000471181.6:c.3751T>A ENSP00000418960.2:p.Cys1251Ser
ENST00000478531.5:c.785-748T>A ENSP00000420412.1:p.=
ENST00000484087.5:n.410-748T>A ENSP00000419481.1:p.=
ENST00000487825.5:n.413-748T>A ENSP00000418212.1:p.=
ENST00000491747.6:c.788-748T>A ENSP00000420705.2:p.=
ENST00000493795.5:c.3610T>A ENSP00000418775.1:p.Cys1204Ser
ENST00000493919.5:c.647-748T>A ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27829T>A ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17259T>A ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33491T>A ENSP00000465347.1:p.=