Canonical Allele Identifier: CA2117634

Gene: CNPPD1

Linked Data

• dbSNP Id: rs76404100
• ExAC: 2:220037505 A / G
• gnomAD v4: 2-219172783-A-G
• MyVariant Identifiers: chr2:g.220037505A>G (hg19) ; chr2:g.219172783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172783A>G , CM000664.2:g.219172783A>G	GRCh38
NC_000002.11:g.220037505A>G , CM000664.1:g.220037505A>G	GRCh37
NC_000002.10:g.219745749A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.1036T>C MANE Select	ENSP00000353698.5:p.Ser346Pro
ENST00000360507.9:c.1036T>C	ENSP00000353698.5:p.Ser346Pro
ENST00000409789.5:c.1036T>C	ENSP00000386277.1:p.Ser346Pro
NM_015680.4:c.1036T>C	NP_056495.3:p.Ser346Pro
XM_005246462.2:c.1036T>C	XP_005246519.1:p.Ser346Pro
XM_005246463.3:c.1036T>C	XP_005246520.1:p.Ser346Pro
XM_006712419.1:c.1036T>C	XP_006712482.1:p.Ser346Pro
NM_001321389.1:c.1036T>C	NP_001308318.1:p.Ser346Pro
NM_001321390.1:c.1036T>C	NP_001308319.1:p.Ser346Pro
NM_001321391.1:c.1036T>C	NP_001308320.1:p.Ser346Pro
NM_015680.5:c.1036T>C	NP_056495.3:p.Ser346Pro
NR_135628.1:n.1081T>C
NR_135629.1:n.1139T>C
XM_024452790.1:c.1066T>C	XP_024308558.1:p.Ser356Pro
NM_015680.6:c.1036T>C MANE Select	NP_056495.4:p.Ser346Pro
NM_001321390.2:c.1036T>C	NP_001308319.2:p.Ser346Pro
NM_001321391.2:c.1036T>C	NP_001308320.2:p.Ser346Pro
NR_135628.2:n.1064T>C
NR_135629.2:n.1071T>C
NM_001321389.2:c.1036T>C	NP_001308318.2:p.Ser346Pro