Canonical Allele Identifier: CA1329092315

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173082G= , CM000664.2:g.219173082G=	GRCh38
NC_000002.11:g.220037804G= , CM000664.1:g.220037804G=	GRCh37
NC_000002.10:g.219746048G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.737C= MANE Select	ENSP00000353698.5:p.Ala246=
ENST00000360507.9:c.737C=	ENSP00000353698.5:p.Ala246=
ENST00000409789.5:c.737C=	ENSP00000386277.1:p.Ala246=
ENST00000451647.1:c.818C=	ENSP00000405997.1:p.Ala273=
ENST00000453038.5:c.737C=	ENSP00000410109.1:p.Ala246=
NM_015680.4:c.737C=	NP_056495.3:p.Ala246=
XM_005246462.2:c.737C=	XP_005246519.1:p.Ala246=
XM_005246463.3:c.737C=	XP_005246520.1:p.Ala246=
XM_006712419.1:c.737C=	XP_006712482.1:p.Ala246=
NM_001321389.1:c.737C=	NP_001308318.1:p.Ala246=
NM_001321390.1:c.737C=	NP_001308319.1:p.Ala246=
NM_001321391.1:c.737C=	NP_001308320.1:p.Ala246=
NM_015680.5:c.737C=	NP_056495.3:p.Ala246=
NR_135628.1:n.782C=
NR_135629.1:n.840C=
XM_024452790.1:c.767C=	XP_024308558.1:p.Ala256=
NM_015680.6:c.737C= MANE Select	NP_056495.4:p.Ala246=
NM_001321390.2:c.737C=	NP_001308319.2:p.Ala246=
NM_001321391.2:c.737C=	NP_001308320.2:p.Ala246=
NR_135628.2:n.765C=
NR_135629.2:n.772C=
NM_001321389.2:c.737C=	NP_001308318.2:p.Ala246=