Canonical Allele Identifier: CA2117749

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173423G>A , CM000664.2:g.219173423G>A	GRCh38
NC_000002.11:g.220038145G>A , CM000664.1:g.220038145G>A	GRCh37
NC_000002.10:g.219746389G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015680.6:c.617C>T MANE Select	NP_056495.4:p.Thr206Ile
ENST00000360507.10:c.617C>T MANE Select	ENSP00000353698.5:p.Thr206Ile
NM_001321389.1:c.617C>T	NP_001308318.1:p.Thr206Ile
NM_001321389.2:c.617C>T	NP_001308318.2:p.Thr206Ile
NM_001321390.1:c.617C>T	NP_001308319.1:p.Thr206Ile
NM_001321390.2:c.617C>T	NP_001308319.2:p.Thr206Ile
NM_001321391.1:c.617C>T	NP_001308320.1:p.Thr206Ile
NM_001321391.2:c.617C>T	NP_001308320.2:p.Thr206Ile
NM_015680.4:c.617C>T	NP_056495.3:p.Thr206Ile
NM_015680.5:c.617C>T	NP_056495.3:p.Thr206Ile
NR_135628.1:n.662C>T
NR_135628.2:n.645C>T
NR_135629.1:n.720C>T
NR_135629.2:n.652C>T
ENST00000360507.9:c.617C>T	ENSP00000353698.5:p.Thr206Ile
ENST00000409789.5:c.617C>T	ENSP00000386277.1:p.Thr206Ile
ENST00000451647.1:c.698C>T	ENSP00000405997.1:p.Thr233Ile
ENST00000453038.5:c.617C>T	ENSP00000410109.1:p.Thr206Ile
XM_005246462.2:c.617C>T	XP_005246519.1:p.Thr206Ile
XM_005246463.3:c.617C>T	XP_005246520.1:p.Thr206Ile
XM_006712419.1:c.617C>T	XP_006712482.1:p.Thr206Ile
XM_024452790.1:c.647C>T	XP_024308558.1:p.Thr216Ile