Canonical Allele Identifier: CA350651199

Gene: CNPPD1

Linked Data

• dbSNP Id: rs975041050
• gnomAD v4: 2-219172981-G-C
• MyVariant Identifiers: chr2:g.220037703G>C (hg19) ; chr2:g.219172981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172981G>C , CM000664.2:g.219172981G>C	GRCh38
NC_000002.11:g.220037703G>C , CM000664.1:g.220037703G>C	GRCh37
NC_000002.10:g.219745947G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.838C>G MANE Select	ENSP00000353698.5:p.Pro280Ala
ENST00000360507.9:c.838C>G	ENSP00000353698.5:p.Pro280Ala
ENST00000409789.5:c.838C>G	ENSP00000386277.1:p.Pro280Ala
ENST00000453038.5:c.838C>G	ENSP00000410109.1:p.Pro280Ala
NM_015680.4:c.838C>G	NP_056495.3:p.Pro280Ala
XM_005246462.2:c.838C>G	XP_005246519.1:p.Pro280Ala
XM_005246463.3:c.838C>G	XP_005246520.1:p.Pro280Ala
XM_006712419.1:c.838C>G	XP_006712482.1:p.Pro280Ala
NM_001321389.1:c.838C>G	NP_001308318.1:p.Pro280Ala
NM_001321390.1:c.838C>G	NP_001308319.1:p.Pro280Ala
NM_001321391.1:c.838C>G	NP_001308320.1:p.Pro280Ala
NM_015680.5:c.838C>G	NP_056495.3:p.Pro280Ala
NR_135628.1:n.883C>G
NR_135629.1:n.941C>G
XM_024452790.1:c.868C>G	XP_024308558.1:p.Pro290Ala
NM_015680.6:c.838C>G MANE Select	NP_056495.4:p.Pro280Ala
NM_001321390.2:c.838C>G	NP_001308319.2:p.Pro280Ala
NM_001321391.2:c.838C>G	NP_001308320.2:p.Pro280Ala
NR_135628.2:n.866C>G
NR_135629.2:n.873C>G
NM_001321389.2:c.838C>G	NP_001308318.2:p.Pro280Ala