Canonical Allele Identifier: CA2117680

Gene: CNPPD1

Linked Data

• dbSNP Id: rs141835303
• ExAC: 2:220037740 C / G
• gnomAD v2: 2-220037740-C-G
• gnomAD v3: 2-219173018-C-G
• gnomAD v4: 2-219173018-C-G
• MyVariant Identifiers: chr2:g.220037740C>G (hg19) ; chr2:g.219173018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173018C>G , CM000664.2:g.219173018C>G	GRCh38
NC_000002.11:g.220037740C>G , CM000664.1:g.220037740C>G	GRCh37
NC_000002.10:g.219745984C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.801G>C MANE Select	ENSP00000353698.5:p.Pro267=
ENST00000360507.9:c.801G>C	ENSP00000353698.5:p.Pro267=
ENST00000409789.5:c.801G>C	ENSP00000386277.1:p.Pro267=
ENST00000453038.5:c.801G>C	ENSP00000410109.1:p.Pro267=
NM_015680.4:c.801G>C	NP_056495.3:p.Pro267=
XM_005246462.2:c.801G>C	XP_005246519.1:p.Pro267=
XM_005246463.3:c.801G>C	XP_005246520.1:p.Pro267=
XM_006712419.1:c.801G>C	XP_006712482.1:p.Pro267=
NM_001321389.1:c.801G>C	NP_001308318.1:p.Pro267=
NM_001321390.1:c.801G>C	NP_001308319.1:p.Pro267=
NM_001321391.1:c.801G>C	NP_001308320.1:p.Pro267=
NM_015680.5:c.801G>C	NP_056495.3:p.Pro267=
NR_135628.1:n.846G>C
NR_135629.1:n.904G>C
XM_024452790.1:c.831G>C	XP_024308558.1:p.Pro277=
NM_015680.6:c.801G>C MANE Select	NP_056495.4:p.Pro267=
NM_001321390.2:c.801G>C	NP_001308319.2:p.Pro267=
NM_001321391.2:c.801G>C	NP_001308320.2:p.Pro267=
NR_135628.2:n.829G>C
NR_135629.2:n.836G>C
NM_001321389.2:c.801G>C	NP_001308318.2:p.Pro267=