Canonical Allele Identifier: CA350651094

Gene: CNPPD1

Linked Data

• dbSNP Id: rs1262287332
• gnomAD v2: 2-220037673-G-A
• gnomAD v4: 2-219172951-G-A
• MyVariant Identifiers: chr2:g.220037673G>A (hg19) ; chr2:g.219172951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172951G>A , CM000664.2:g.219172951G>A	GRCh38
NC_000002.11:g.220037673G>A , CM000664.1:g.220037673G>A	GRCh37
NC_000002.10:g.219745917G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.868C>T MANE Select	ENSP00000353698.5:p.Pro290Ser
ENST00000360507.9:c.868C>T	ENSP00000353698.5:p.Pro290Ser
ENST00000409789.5:c.868C>T	ENSP00000386277.1:p.Pro290Ser
ENST00000453038.5:c.868C>T	ENSP00000410109.1:p.Pro290Ser
NM_015680.4:c.868C>T	NP_056495.3:p.Pro290Ser
XM_005246462.2:c.868C>T	XP_005246519.1:p.Pro290Ser
XM_005246463.3:c.868C>T	XP_005246520.1:p.Pro290Ser
XM_006712419.1:c.868C>T	XP_006712482.1:p.Pro290Ser
NM_001321389.1:c.868C>T	NP_001308318.1:p.Pro290Ser
NM_001321390.1:c.868C>T	NP_001308319.1:p.Pro290Ser
NM_001321391.1:c.868C>T	NP_001308320.1:p.Pro290Ser
NM_015680.5:c.868C>T	NP_056495.3:p.Pro290Ser
NR_135628.1:n.913C>T
NR_135629.1:n.971C>T
XM_024452790.1:c.898C>T	XP_024308558.1:p.Pro300Ser
NM_015680.6:c.868C>T MANE Select	NP_056495.4:p.Pro290Ser
NM_001321390.2:c.868C>T	NP_001308319.2:p.Pro290Ser
NM_001321391.2:c.868C>T	NP_001308320.2:p.Pro290Ser
NR_135628.2:n.896C>T
NR_135629.2:n.903C>T
NM_001321389.2:c.868C>T	NP_001308318.2:p.Pro290Ser