Canonical Allele Identifier: CA2117659

Gene: CNPPD1

Linked Data

• dbSNP Id: rs750835423
• ExAC: 2:220037641 T / G
• gnomAD v2: 2-220037641-T-G
• MyVariant Identifiers: chr2:g.220037641T>G (hg19) ; chr2:g.219172919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172919T>G , CM000664.2:g.219172919T>G	GRCh38
NC_000002.11:g.220037641T>G , CM000664.1:g.220037641T>G	GRCh37
NC_000002.10:g.219745885T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.900A>C MANE Select	ENSP00000353698.5:p.Glu300Asp
ENST00000360507.9:c.900A>C	ENSP00000353698.5:p.Glu300Asp
ENST00000409789.5:c.900A>C	ENSP00000386277.1:p.Glu300Asp
ENST00000453038.5:c.900A>C	ENSP00000410109.1:p.Glu300Asp
NM_015680.4:c.900A>C	NP_056495.3:p.Glu300Asp
XM_005246462.2:c.900A>C	XP_005246519.1:p.Glu300Asp
XM_005246463.3:c.900A>C	XP_005246520.1:p.Glu300Asp
XM_006712419.1:c.900A>C	XP_006712482.1:p.Glu300Asp
NM_001321389.1:c.900A>C	NP_001308318.1:p.Glu300Asp
NM_001321390.1:c.900A>C	NP_001308319.1:p.Glu300Asp
NM_001321391.1:c.900A>C	NP_001308320.1:p.Glu300Asp
NM_015680.5:c.900A>C	NP_056495.3:p.Glu300Asp
NR_135628.1:n.945A>C
NR_135629.1:n.1003A>C
XM_024452790.1:c.930A>C	XP_024308558.1:p.Glu310Asp
NM_015680.6:c.900A>C MANE Select	NP_056495.4:p.Glu300Asp
NM_001321390.2:c.900A>C	NP_001308319.2:p.Glu300Asp
NM_001321391.2:c.900A>C	NP_001308320.2:p.Glu300Asp
NR_135628.2:n.928A>C
NR_135629.2:n.935A>C
NM_001321389.2:c.900A>C	NP_001308318.2:p.Glu300Asp