LDH info

Canonical Allele Identifier: CA10594457
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091773G>A , CM000679.2:g.43091773G>A GRCh38
NC_000017.10:g.41243790G>A , CM000679.1:g.41243790G>A GRCh37
NC_000017.9:g.38497316G>A NCBI36
NG_005905.2:g.126211C>T , LRG_292:g.126211C>T

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3758C>T , LRG_292t1:c.3758C>T NP_009225.1:p.Ser1253Phe
NM_007297.3:c.3617C>T VV NP_009228.2:p.Ser1206Phe
NM_007298.3:c.788-741C>T VV NP_009229.2:p.=
NM_007299.3:c.788-741C>T VV NP_009230.2:p.=
NM_007300.3:c.3758C>T VV NP_009231.2:p.Ser1253Phe
NR_027676.1:n.3894C>T
NM_007294.4:c.3758C>T VV MANE Preferred NP_009225.1:p.Ser1253Phe
NM_007297.4:c.3617C>T VV NP_009228.2:p.Ser1206Phe
NM_007299.4:c.788-741C>T VV NP_009230.2:p.=
NM_007300.4:c.3758C>T VV NP_009231.2:p.Ser1253Phe
NR_027676.2:n.3935C>T
ENST00000352993.7:c.671-741C>T ENSP00000312236.5:p.=
ENST00000354071.7:c.3758C>T ENSP00000326002.7:p.Ser1253Phe
ENST00000357654.7:c.3758C>T ENSP00000350283.3:p.Ser1253Phe
ENST00000461221.5:c.*3541C>T ENSP00000418548.1:p.=
ENST00000461574.1:n.52C>T
ENST00000468300.5:c.788-741C>T ENSP00000417148.1:p.=
ENST00000471181.6:c.3758C>T ENSP00000418960.2:p.Ser1253Phe
ENST00000478531.5:c.785-741C>T ENSP00000420412.1:p.=
ENST00000484087.5:n.410-741C>T ENSP00000419481.1:p.=
ENST00000487825.5:n.413-741C>T ENSP00000418212.1:p.=
ENST00000491747.6:c.788-741C>T ENSP00000420705.2:p.=
ENST00000493795.5:c.3617C>T ENSP00000418775.1:p.Ser1206Phe
ENST00000493919.5:c.647-741C>T ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27822C>T ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17252C>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33498C>T ENSP00000465347.1:p.=