Canonical Allele Identifier: CA2117700

Gene: CNPPD1

Linked Data

• dbSNP Id: rs752900706
• ExAC: 2:220037829 C / T
• gnomAD v2: 2-220037829-C-T
• gnomAD v4: 2-219173107-C-T
• MyVariant Identifiers: chr2:g.220037829C>T (hg19) ; chr2:g.219173107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173107C>T , CM000664.2:g.219173107C>T	GRCh38
NC_000002.11:g.220037829C>T , CM000664.1:g.220037829C>T	GRCh37
NC_000002.10:g.219746073C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.712G>A MANE Select	ENSP00000353698.5:p.Ala238Thr
ENST00000360507.9:c.712G>A	ENSP00000353698.5:p.Ala238Thr
ENST00000409789.5:c.712G>A	ENSP00000386277.1:p.Ala238Thr
ENST00000451647.1:c.793G>A	ENSP00000405997.1:p.Ala265Thr
ENST00000453038.5:c.712G>A	ENSP00000410109.1:p.Ala238Thr
NM_015680.4:c.712G>A	NP_056495.3:p.Ala238Thr
XM_005246462.2:c.712G>A	XP_005246519.1:p.Ala238Thr
XM_005246463.3:c.712G>A	XP_005246520.1:p.Ala238Thr
XM_006712419.1:c.712G>A	XP_006712482.1:p.Ala238Thr
NM_001321389.1:c.712G>A	NP_001308318.1:p.Ala238Thr
NM_001321390.1:c.712G>A	NP_001308319.1:p.Ala238Thr
NM_001321391.1:c.712G>A	NP_001308320.1:p.Ala238Thr
NM_015680.5:c.712G>A	NP_056495.3:p.Ala238Thr
NR_135628.1:n.757G>A
NR_135629.1:n.815G>A
XM_024452790.1:c.742G>A	XP_024308558.1:p.Ala248Thr
NM_015680.6:c.712G>A MANE Select	NP_056495.4:p.Ala238Thr
NM_001321390.2:c.712G>A	NP_001308319.2:p.Ala238Thr
NM_001321391.2:c.712G>A	NP_001308320.2:p.Ala238Thr
NR_135628.2:n.740G>A
NR_135629.2:n.747G>A
NM_001321389.2:c.712G>A	NP_001308318.2:p.Ala238Thr