Canonical Allele Identifier: CA1329092222

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172889G= , CM000664.2:g.219172889G=	GRCh38
NC_000002.11:g.220037611G= , CM000664.1:g.220037611G=	GRCh37
NC_000002.10:g.219745855G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.930C= MANE Select	ENSP00000353698.5:p.Gly310=
ENST00000360507.9:c.930C=	ENSP00000353698.5:p.Gly310=
ENST00000409789.5:c.930C=	ENSP00000386277.1:p.Gly310=
NM_015680.4:c.930C=	NP_056495.3:p.Gly310=
XM_005246462.2:c.930C=	XP_005246519.1:p.Gly310=
XM_005246463.3:c.930C=	XP_005246520.1:p.Gly310=
XM_006712419.1:c.930C=	XP_006712482.1:p.Gly310=
NM_001321389.1:c.930C=	NP_001308318.1:p.Gly310=
NM_001321390.1:c.930C=	NP_001308319.1:p.Gly310=
NM_001321391.1:c.930C=	NP_001308320.1:p.Gly310=
NM_015680.5:c.930C=	NP_056495.3:p.Gly310=
NR_135628.1:n.975C=
NR_135629.1:n.1033C=
XM_024452790.1:c.960C=	XP_024308558.1:p.Gly320=
NM_015680.6:c.930C= MANE Select	NP_056495.4:p.Gly310=
NM_001321390.2:c.930C=	NP_001308319.2:p.Gly310=
NM_001321391.2:c.930C=	NP_001308320.2:p.Gly310=
NR_135628.2:n.958C=
NR_135629.2:n.965C=
NM_001321389.2:c.930C=	NP_001308318.2:p.Gly310=