Canonical Allele Identifier: CA2117667

Gene: CNPPD1

Linked Data

• ClinVar Variation Id: 2289529
• ClinVar RCV Id: RCV004139536
• dbSNP Id: rs148863097
• ExAC: 2:220037675 A / G
• gnomAD v2: 2-220037675-A-G
• gnomAD v4: 2-219172953-A-G
• MyVariant Identifiers: chr2:g.220037675A>G (hg19) ; chr2:g.219172953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172953A>G , CM000664.2:g.219172953A>G	GRCh38
NC_000002.11:g.220037675A>G , CM000664.1:g.220037675A>G	GRCh37
NC_000002.10:g.219745919A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.866T>C MANE Select	ENSP00000353698.5:p.Leu289Pro
ENST00000360507.9:c.866T>C	ENSP00000353698.5:p.Leu289Pro
ENST00000409789.5:c.866T>C	ENSP00000386277.1:p.Leu289Pro
ENST00000453038.5:c.866T>C	ENSP00000410109.1:p.Leu289Pro
NM_015680.4:c.866T>C	NP_056495.3:p.Leu289Pro
XM_005246462.2:c.866T>C	XP_005246519.1:p.Leu289Pro
XM_005246463.3:c.866T>C	XP_005246520.1:p.Leu289Pro
XM_006712419.1:c.866T>C	XP_006712482.1:p.Leu289Pro
NM_001321389.1:c.866T>C	NP_001308318.1:p.Leu289Pro
NM_001321390.1:c.866T>C	NP_001308319.1:p.Leu289Pro
NM_001321391.1:c.866T>C	NP_001308320.1:p.Leu289Pro
NM_015680.5:c.866T>C	NP_056495.3:p.Leu289Pro
NR_135628.1:n.911T>C
NR_135629.1:n.969T>C
XM_024452790.1:c.896T>C	XP_024308558.1:p.Leu299Pro
NM_015680.6:c.866T>C MANE Select	NP_056495.4:p.Leu289Pro
NM_001321390.2:c.866T>C	NP_001308319.2:p.Leu289Pro
NM_001321391.2:c.866T>C	NP_001308320.2:p.Leu289Pro
NR_135628.2:n.894T>C
NR_135629.2:n.901T>C
NM_001321389.2:c.866T>C	NP_001308318.2:p.Leu289Pro