Canonical Allele Identifier: CA1329092260
Gene: CNPPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219172957A= , CM000664.2:g.219172957A= GRCh38
NC_000002.11:g.220037679A= , CM000664.1:g.220037679A= GRCh37
NC_000002.10:g.219745923A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360507.10:c.862T= MANE Select ENSP00000353698.5:p.Cys288=
ENST00000360507.9:c.862T= ENSP00000353698.5:p.Cys288=
ENST00000409789.5:c.862T= ENSP00000386277.1:p.Cys288=
ENST00000453038.5:c.862T= ENSP00000410109.1:p.Cys288=
NM_015680.4:c.862T= NP_056495.3:p.Cys288=
XM_005246462.2:c.862T= XP_005246519.1:p.Cys288=
XM_005246463.3:c.862T= XP_005246520.1:p.Cys288=
XM_006712419.1:c.862T= XP_006712482.1:p.Cys288=
NM_001321389.1:c.862T= NP_001308318.1:p.Cys288=
NM_001321390.1:c.862T= NP_001308319.1:p.Cys288=
NM_001321391.1:c.862T= NP_001308320.1:p.Cys288=
NM_015680.5:c.862T= NP_056495.3:p.Cys288=
NR_135628.1:n.907T=
NR_135629.1:n.965T=
XM_024452790.1:c.892T= XP_024308558.1:p.Cys298=
NM_015680.6:c.862T= MANE Select NP_056495.4:p.Cys288=
NM_001321390.2:c.862T= NP_001308319.2:p.Cys288=
NM_001321391.2:c.862T= NP_001308320.2:p.Cys288=
NR_135628.2:n.890T=
NR_135629.2:n.897T=
NM_001321389.2:c.862T= NP_001308318.2:p.Cys288=