Canonical Allele Identifier: CA2117887

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219175649T>C , CM000664.2:g.219175649T>C	GRCh38
NC_000002.11:g.220040371T>C , CM000664.1:g.220040371T>C	GRCh37
NC_000002.10:g.219748615T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015680.6:c.202A>G MANE Select	NP_056495.4:p.Lys68Glu
ENST00000360507.10:c.202A>G MANE Select	ENSP00000353698.5:p.Lys68Glu
NM_001321389.1:c.202A>G	NP_001308318.1:p.Lys68Glu
NM_001321389.2:c.202A>G	NP_001308318.2:p.Lys68Glu
NM_001321390.1:c.202A>G	NP_001308319.1:p.Lys68Glu
NM_001321390.2:c.202A>G	NP_001308319.2:p.Lys68Glu
NM_001321391.1:c.202A>G	NP_001308320.1:p.Lys68Glu
NM_001321391.2:c.202A>G	NP_001308320.2:p.Lys68Glu
NM_015680.4:c.202A>G	NP_056495.3:p.Lys68Glu
NM_015680.5:c.202A>G	NP_056495.3:p.Lys68Glu
NR_135628.1:n.309A>G
NR_135628.2:n.292A>G
NR_135629.1:n.367A>G
NR_135629.2:n.299A>G
ENST00000360507.9:c.202A>G	ENSP00000353698.5:p.Lys68Glu
ENST00000409789.5:c.202A>G	ENSP00000386277.1:p.Lys68Glu
ENST00000451647.1:c.202A>G	ENSP00000405997.1:p.Lys68Glu
ENST00000453038.5:c.202A>G	ENSP00000410109.1:p.Lys68Glu
XM_005246462.2:c.202A>G	XP_005246519.1:p.Lys68Glu
XM_005246463.3:c.202A>G	XP_005246520.1:p.Lys68Glu
XM_006712419.1:c.202A>G	XP_006712482.1:p.Lys68Glu
XM_024452790.1:c.232A>G	XP_024308558.1:p.Lys78Glu