Canonical Allele Identifier: CA350651164
Gene: CNPPD1 HGNC NCBI

Linked Data

dbSNP Id: rs147997504

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219172971G>T , CM000664.2:g.219172971G>T GRCh38
NC_000002.11:g.220037693G>T , CM000664.1:g.220037693G>T GRCh37
NC_000002.10:g.219745937G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360507.10:c.848C>A MANE Select ENSP00000353698.5:p.Pro283His
ENST00000360507.9:c.848C>A ENSP00000353698.5:p.Pro283His
ENST00000409789.5:c.848C>A ENSP00000386277.1:p.Pro283His
ENST00000453038.5:c.848C>A ENSP00000410109.1:p.Pro283His
NM_015680.4:c.848C>A NP_056495.3:p.Pro283His
XM_005246462.2:c.848C>A XP_005246519.1:p.Pro283His
XM_005246463.3:c.848C>A XP_005246520.1:p.Pro283His
XM_006712419.1:c.848C>A XP_006712482.1:p.Pro283His
NM_001321389.1:c.848C>A NP_001308318.1:p.Pro283His
NM_001321390.1:c.848C>A NP_001308319.1:p.Pro283His
NM_001321391.1:c.848C>A NP_001308320.1:p.Pro283His
NM_015680.5:c.848C>A NP_056495.3:p.Pro283His
NR_135628.1:n.893C>A
NR_135629.1:n.951C>A
XM_024452790.1:c.878C>A XP_024308558.1:p.Pro293His
NM_015680.6:c.848C>A MANE Select NP_056495.4:p.Pro283His
NM_001321390.2:c.848C>A NP_001308319.2:p.Pro283His
NM_001321391.2:c.848C>A NP_001308320.2:p.Pro283His
NR_135628.2:n.876C>A
NR_135629.2:n.883C>A
NM_001321389.2:c.848C>A NP_001308318.2:p.Pro283His