Canonical Allele Identifier: CA350650496

Gene: CNPPD1

Linked Data

• ClinVar Variation Id: 2311947
• ClinVar RCV Id: RCV004156275
• MyVariant Identifiers: chr2:g.220037550T>C (hg19) ; chr2:g.219172828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172828T>C , CM000664.2:g.219172828T>C	GRCh38
NC_000002.11:g.220037550T>C , CM000664.1:g.220037550T>C	GRCh37
NC_000002.10:g.219745794T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.991A>G MANE Select	ENSP00000353698.5:p.Thr331Ala
ENST00000360507.9:c.991A>G	ENSP00000353698.5:p.Thr331Ala
ENST00000409789.5:c.991A>G	ENSP00000386277.1:p.Thr331Ala
NM_015680.4:c.991A>G	NP_056495.3:p.Thr331Ala
XM_005246462.2:c.991A>G	XP_005246519.1:p.Thr331Ala
XM_005246463.3:c.991A>G	XP_005246520.1:p.Thr331Ala
XM_006712419.1:c.991A>G	XP_006712482.1:p.Thr331Ala
NM_001321389.1:c.991A>G	NP_001308318.1:p.Thr331Ala
NM_001321390.1:c.991A>G	NP_001308319.1:p.Thr331Ala
NM_001321391.1:c.991A>G	NP_001308320.1:p.Thr331Ala
NM_015680.5:c.991A>G	NP_056495.3:p.Thr331Ala
NR_135628.1:n.1036A>G
NR_135629.1:n.1094A>G
XM_024452790.1:c.1021A>G	XP_024308558.1:p.Thr341Ala
NM_015680.6:c.991A>G MANE Select	NP_056495.4:p.Thr331Ala
NM_001321390.2:c.991A>G	NP_001308319.2:p.Thr331Ala
NM_001321391.2:c.991A>G	NP_001308320.2:p.Thr331Ala
NR_135628.2:n.1019A>G
NR_135629.2:n.1026A>G
NM_001321389.2:c.991A>G	NP_001308318.2:p.Thr331Ala