Canonical Allele Identifier: CA350650604

Gene: CNPPD1

Linked Data

• dbSNP Id: rs144214406
• gnomAD v2: 2-220037570-G-T
• gnomAD v4: 2-219172848-G-T
• MyVariant Identifiers: chr2:g.220037570G>T (hg19) ; chr2:g.219172848G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172848G>T , CM000664.2:g.219172848G>T	GRCh38
NC_000002.11:g.220037570G>T , CM000664.1:g.220037570G>T	GRCh37
NC_000002.10:g.219745814G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.971C>A MANE Select	ENSP00000353698.5:p.Pro324Gln
ENST00000360507.9:c.971C>A	ENSP00000353698.5:p.Pro324Gln
ENST00000409789.5:c.971C>A	ENSP00000386277.1:p.Pro324Gln
NM_015680.4:c.971C>A	NP_056495.3:p.Pro324Gln
XM_005246462.2:c.971C>A	XP_005246519.1:p.Pro324Gln
XM_005246463.3:c.971C>A	XP_005246520.1:p.Pro324Gln
XM_006712419.1:c.971C>A	XP_006712482.1:p.Pro324Gln
NM_001321389.1:c.971C>A	NP_001308318.1:p.Pro324Gln
NM_001321390.1:c.971C>A	NP_001308319.1:p.Pro324Gln
NM_001321391.1:c.971C>A	NP_001308320.1:p.Pro324Gln
NM_015680.5:c.971C>A	NP_056495.3:p.Pro324Gln
NR_135628.1:n.1016C>A
NR_135629.1:n.1074C>A
XM_024452790.1:c.1001C>A	XP_024308558.1:p.Pro334Gln
NM_015680.6:c.971C>A MANE Select	NP_056495.4:p.Pro324Gln
NM_001321390.2:c.971C>A	NP_001308319.2:p.Pro324Gln
NM_001321391.2:c.971C>A	NP_001308320.2:p.Pro324Gln
NR_135628.2:n.999C>A
NR_135629.2:n.1006C>A
NM_001321389.2:c.971C>A	NP_001308318.2:p.Pro324Gln