Canonical Allele Identifier: CA2117675
Gene: CNPPD1 HGNC NCBI

Linked Data

dbSNP Id: rs761363444

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219172996G>A , CM000664.2:g.219172996G>A GRCh38
NC_000002.11:g.220037718G>A , CM000664.1:g.220037718G>A GRCh37
NC_000002.10:g.219745962G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360507.10:c.823C>T MANE Select ENSP00000353698.5:p.Arg275Cys
ENST00000360507.9:c.823C>T ENSP00000353698.5:p.Arg275Cys
ENST00000409789.5:c.823C>T ENSP00000386277.1:p.Arg275Cys
ENST00000453038.5:c.823C>T ENSP00000410109.1:p.Arg275Cys
NM_015680.4:c.823C>T NP_056495.3:p.Arg275Cys
XM_005246462.2:c.823C>T XP_005246519.1:p.Arg275Cys
XM_005246463.3:c.823C>T XP_005246520.1:p.Arg275Cys
XM_006712419.1:c.823C>T XP_006712482.1:p.Arg275Cys
NM_001321389.1:c.823C>T NP_001308318.1:p.Arg275Cys
NM_001321390.1:c.823C>T NP_001308319.1:p.Arg275Cys
NM_001321391.1:c.823C>T NP_001308320.1:p.Arg275Cys
NM_015680.5:c.823C>T NP_056495.3:p.Arg275Cys
NR_135628.1:n.868C>T
NR_135629.1:n.926C>T
XM_024452790.1:c.853C>T XP_024308558.1:p.Arg285Cys
NM_015680.6:c.823C>T MANE Select NP_056495.4:p.Arg275Cys
NM_001321390.2:c.823C>T NP_001308319.2:p.Arg275Cys
NM_001321391.2:c.823C>T NP_001308320.2:p.Arg275Cys
NR_135628.2:n.851C>T
NR_135629.2:n.858C>T
NM_001321389.2:c.823C>T NP_001308318.2:p.Arg275Cys