Canonical Allele Identifier: CA2117676

Gene: CNPPD1

Linked Data

• dbSNP Id: rs768069583
• ExAC: 2:220037727 G / A
• gnomAD v2: 2-220037727-G-A
• MyVariant Identifiers: chr2:g.220037727G>A (hg19) ; chr2:g.219173005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173005G>A , CM000664.2:g.219173005G>A	GRCh38
NC_000002.11:g.220037727G>A , CM000664.1:g.220037727G>A	GRCh37
NC_000002.10:g.219745971G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.814C>T MANE Select	ENSP00000353698.5:p.Leu272=
ENST00000360507.9:c.814C>T	ENSP00000353698.5:p.Leu272=
ENST00000409789.5:c.814C>T	ENSP00000386277.1:p.Leu272=
ENST00000453038.5:c.814C>T	ENSP00000410109.1:p.Leu272=
NM_015680.4:c.814C>T	NP_056495.3:p.Leu272=
XM_005246462.2:c.814C>T	XP_005246519.1:p.Leu272=
XM_005246463.3:c.814C>T	XP_005246520.1:p.Leu272=
XM_006712419.1:c.814C>T	XP_006712482.1:p.Leu272=
NM_001321389.1:c.814C>T	NP_001308318.1:p.Leu272=
NM_001321390.1:c.814C>T	NP_001308319.1:p.Leu272=
NM_001321391.1:c.814C>T	NP_001308320.1:p.Leu272=
NM_015680.5:c.814C>T	NP_056495.3:p.Leu272=
NR_135628.1:n.859C>T
NR_135629.1:n.917C>T
XM_024452790.1:c.844C>T	XP_024308558.1:p.Leu282=
NM_015680.6:c.814C>T MANE Select	NP_056495.4:p.Leu272=
NM_001321390.2:c.814C>T	NP_001308319.2:p.Leu272=
NM_001321391.2:c.814C>T	NP_001308320.2:p.Leu272=
NR_135628.2:n.842C>T
NR_135629.2:n.849C>T
NM_001321389.2:c.814C>T	NP_001308318.2:p.Leu272=