Canonical Allele Identifier: CA350651841

Gene: CNPPD1

Linked Data

• MyVariant Identifiers: chr2:g.220037840A>T (hg19) ; chr2:g.219173118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173118A>T , CM000664.2:g.219173118A>T	GRCh38
NC_000002.11:g.220037840A>T , CM000664.1:g.220037840A>T	GRCh37
NC_000002.10:g.219746084A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.701T>A MANE Select	ENSP00000353698.5:p.Leu234Gln
ENST00000360507.9:c.701T>A	ENSP00000353698.5:p.Leu234Gln
ENST00000409789.5:c.701T>A	ENSP00000386277.1:p.Leu234Gln
ENST00000451647.1:c.782T>A	ENSP00000405997.1:p.Leu261Gln
ENST00000453038.5:c.701T>A	ENSP00000410109.1:p.Leu234Gln
NM_015680.4:c.701T>A	NP_056495.3:p.Leu234Gln
XM_005246462.2:c.701T>A	XP_005246519.1:p.Leu234Gln
XM_005246463.3:c.701T>A	XP_005246520.1:p.Leu234Gln
XM_006712419.1:c.701T>A	XP_006712482.1:p.Leu234Gln
NM_001321389.1:c.701T>A	NP_001308318.1:p.Leu234Gln
NM_001321390.1:c.701T>A	NP_001308319.1:p.Leu234Gln
NM_001321391.1:c.701T>A	NP_001308320.1:p.Leu234Gln
NM_015680.5:c.701T>A	NP_056495.3:p.Leu234Gln
NR_135628.1:n.746T>A
NR_135629.1:n.804T>A
XM_024452790.1:c.731T>A	XP_024308558.1:p.Leu244Gln
NM_015680.6:c.701T>A MANE Select	NP_056495.4:p.Leu234Gln
NM_001321390.2:c.701T>A	NP_001308319.2:p.Leu234Gln
NM_001321391.2:c.701T>A	NP_001308320.2:p.Leu234Gln
NR_135628.2:n.729T>A
NR_135629.2:n.736T>A
NM_001321389.2:c.701T>A	NP_001308318.2:p.Leu234Gln