Canonical Allele Identifier: CA1329092171

Gene: CNPPD1

Linked Data

• dbSNP Id: rs1950092678

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172790_219172791dup , CM000664.2:g.219172790_219172791dup	GRCh38
NC_000002.11:g.220037512_220037513dup , CM000664.1:g.220037512_220037513dup	GRCh37
NC_000002.10:g.219745756_219745757dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.1033_1034dup MANE Select	ENSP00000353698.5:p.Asp345GlufsTer?
ENST00000360507.9:c.1033_1034dup	ENSP00000353698.5:p.Asp345GlufsTer?
ENST00000409789.5:c.1033_1034dup	ENSP00000386277.1:p.Asp345GlufsTer?
NM_015680.4:c.1033_1034dup	NP_056495.3:p.Asp345GlufsTer?
XM_005246462.2:c.1033_1034dup	XP_005246519.1:p.Asp345GlufsTer?
XM_005246463.3:c.1033_1034dup	XP_005246520.1:p.Asp345GlufsTer?
XM_006712419.1:c.1033_1034dup	XP_006712482.1:p.Asp345GlufsTer?
NM_001321389.1:c.1033_1034dup	NP_001308318.1:p.Asp345GlufsTer?
NM_001321390.1:c.1033_1034dup	NP_001308319.1:p.Asp345GlufsTer?
NM_001321391.1:c.1033_1034dup	NP_001308320.1:p.Asp345GlufsTer?
NM_015680.5:c.1033_1034dup	NP_056495.3:p.Asp345GlufsTer?
NR_135628.1:n.1078_1079dup
NR_135629.1:n.1136_1137dup
XM_024452790.1:c.1063_1064dup	XP_024308558.1:p.Asp355GlufsTer?
NM_015680.6:c.1033_1034dup MANE Select	NP_056495.4:p.Asp345GlufsTer?
NM_001321390.2:c.1033_1034dup	NP_001308319.2:p.Asp345GlufsTer?
NM_001321391.2:c.1033_1034dup	NP_001308320.2:p.Asp345GlufsTer?
NR_135628.2:n.1061_1062dup
NR_135629.2:n.1068_1069dup
NM_001321389.2:c.1033_1034dup	NP_001308318.2:p.Asp345GlufsTer?