Canonical Allele Identifier: CA2117703

Gene: CNPPD1

Linked Data

• dbSNP Id: rs200976887
• ExAC: 2:220037853 G / A
• gnomAD v2: 2-220037853-G-A
• gnomAD v3: 2-219173131-G-A
• gnomAD v4: 2-219173131-G-A
• MyVariant Identifiers: chr2:g.220037853G>A (hg19) ; chr2:g.219173131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173131G>A , CM000664.2:g.219173131G>A	GRCh38
NC_000002.11:g.220037853G>A , CM000664.1:g.220037853G>A	GRCh37
NC_000002.10:g.219746097G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.691-3C>T MANE Select	ENSP00000353698.5:n.691-3C>T
ENST00000360507.9:c.691-3C>T	ENSP00000353698.5:n.691-3C>T
ENST00000409789.5:c.691-3C>T	ENSP00000386277.1:n.691-3C>T
ENST00000451647.1:c.772-3C>T	ENSP00000405997.1:n.772-3C>T
ENST00000453038.5:c.691-3C>T	ENSP00000410109.1:n.691-3C>T
NM_015680.4:c.691-3C>T	NP_056495.3:n.691-3C>T
XM_005246462.2:c.691-3C>T	XP_005246519.1:n.691-3C>T
XM_005246463.3:c.691-3C>T	XP_005246520.1:n.691-3C>T
XM_006712419.1:c.691-3C>T	XP_006712482.1:n.691-3C>T
NM_001321389.1:c.691-3C>T	NP_001308318.1:n.691-3C>T
NM_001321390.1:c.691-3C>T	NP_001308319.1:n.691-3C>T
NM_001321391.1:c.691-3C>T	NP_001308320.1:n.691-3C>T
NM_015680.5:c.691-3C>T	NP_056495.3:n.691-3C>T
NR_135628.1:n.736-3C>T
NR_135629.1:n.794-3C>T
XM_024452790.1:c.721-3C>T	XP_024308558.1:n.721-3C>T
NM_015680.6:c.691-3C>T MANE Select	NP_056495.4:n.691-3C>T
NM_001321390.2:c.691-3C>T	NP_001308319.2:n.691-3C>T
NM_001321391.2:c.691-3C>T	NP_001308320.2:n.691-3C>T
NR_135628.2:n.719-3C>T
NR_135629.2:n.726-3C>T
NM_001321389.2:c.691-3C>T	NP_001308318.2:n.691-3C>T