Canonical Allele Identifier: CA2117803

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219174810T>C , CM000664.2:g.219174810T>C	GRCh38
NC_000002.11:g.220039532T>C , CM000664.1:g.220039532T>C	GRCh37
NC_000002.10:g.219747776T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.478A>G MANE Select	ENSP00000353698.5:p.Asn160Asp
ENST00000360507.9:c.478A>G	ENSP00000353698.5:p.Asn160Asp
ENST00000409789.5:c.478A>G	ENSP00000386277.1:p.Asn160Asp
ENST00000451647.1:c.559A>G	ENSP00000405997.1:p.Asn187Asp
ENST00000453038.5:c.478A>G	ENSP00000410109.1:p.Asn160Asp
NM_015680.4:c.478A>G	NP_056495.3:p.Asn160Asp
XM_005246462.2:c.478A>G	XP_005246519.1:p.Asn160Asp
XM_005246463.3:c.478A>G	XP_005246520.1:p.Asn160Asp
XM_006712419.1:c.478A>G	XP_006712482.1:p.Asn160Asp
NM_001321389.1:c.478A>G	NP_001308318.1:p.Asn160Asp
NM_001321390.1:c.478A>G	NP_001308319.1:p.Asn160Asp
NM_001321391.1:c.478A>G	NP_001308320.1:p.Asn160Asp
NM_015680.5:c.478A>G	NP_056495.3:p.Asn160Asp
NR_135628.1:n.585A>G
NR_135629.1:n.643A>G
XM_024452790.1:c.508A>G	XP_024308558.1:p.Asn170Asp
NM_015680.6:c.478A>G MANE Select	NP_056495.4:p.Asn160Asp
NM_001321390.2:c.478A>G	NP_001308319.2:p.Asn160Asp
NM_001321391.2:c.478A>G	NP_001308320.2:p.Asn160Asp
NR_135628.2:n.568A>G
NR_135629.2:n.575A>G
NM_001321389.2:c.478A>G	NP_001308318.2:p.Asn160Asp