Canonical Allele Identifier: CA350651022

Gene: CNPPD1

Linked Data

• dbSNP Id: rs1950096846
• gnomAD v4: 2-219172935-A-T
• MyVariant Identifiers: chr2:g.220037657A>T (hg19) ; chr2:g.219172935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172935A>T , CM000664.2:g.219172935A>T	GRCh38
NC_000002.11:g.220037657A>T , CM000664.1:g.220037657A>T	GRCh37
NC_000002.10:g.219745901A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.884T>A MANE Select	ENSP00000353698.5:p.Val295Asp
ENST00000360507.9:c.884T>A	ENSP00000353698.5:p.Val295Asp
ENST00000409789.5:c.884T>A	ENSP00000386277.1:p.Val295Asp
ENST00000453038.5:c.884T>A	ENSP00000410109.1:p.Val295Asp
NM_015680.4:c.884T>A	NP_056495.3:p.Val295Asp
XM_005246462.2:c.884T>A	XP_005246519.1:p.Val295Asp
XM_005246463.3:c.884T>A	XP_005246520.1:p.Val295Asp
XM_006712419.1:c.884T>A	XP_006712482.1:p.Val295Asp
NM_001321389.1:c.884T>A	NP_001308318.1:p.Val295Asp
NM_001321390.1:c.884T>A	NP_001308319.1:p.Val295Asp
NM_001321391.1:c.884T>A	NP_001308320.1:p.Val295Asp
NM_015680.5:c.884T>A	NP_056495.3:p.Val295Asp
NR_135628.1:n.929T>A
NR_135629.1:n.987T>A
XM_024452790.1:c.914T>A	XP_024308558.1:p.Val305Asp
NM_015680.6:c.884T>A MANE Select	NP_056495.4:p.Val295Asp
NM_001321390.2:c.884T>A	NP_001308319.2:p.Val295Asp
NM_001321391.2:c.884T>A	NP_001308320.2:p.Val295Asp
NR_135628.2:n.912T>A
NR_135629.2:n.919T>A
NM_001321389.2:c.884T>A	NP_001308318.2:p.Val295Asp