Canonical Allele Identifier: CA2641273949

Gene: NPC1

Linked Data

• gnomAD v4: 18-23556255-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556256dup , CM000680.2:g.23556256dup	GRCh38
NC_000018.9:g.21136220dup , CM000680.1:g.21136220dup	GRCh37
NC_000018.8:g.19390218dup	NCBI36
NG_012795.1:g.35362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1313dup MANE Select	ENSP00000269228.4:p.Ile439AspfsTer7
ENST00000269228.9:c.1313dup	ENSP00000269228.4:p.Ile439AspfsTer7
ENST00000540608.5:n.1227dup
ENST00000591051.1:c.595dup
NM_000271.4:c.1313dup	NP_000262.2:p.Ile439AspfsTer7
XM_005258277.1:c.1364dup	XP_005258334.1:p.Ile456AspfsTer7
XM_005258278.3:c.1364dup	XP_005258335.1:p.Ile456AspfsTer7
XM_005258279.1:c.1313dup	XP_005258336.1:p.Ile439AspfsTer7
XM_006722479.2:c.1364dup	XP_006722542.1:p.Ile456AspfsTer7
XM_011526015.1:c.899dup	XP_011524317.1:p.Ile301AspfsTer7
XM_005258278.5:c.1364dup	XP_005258335.1:p.Ile456AspfsTer7
XM_005258279.2:c.1313dup	XP_005258336.1:p.Ile439AspfsTer7
XM_006722479.3:c.1364dup	XP_006722542.1:p.Ile456AspfsTer7
XM_017025784.1:c.1364dup	XP_016881273.1:p.Ile456AspfsTer7
XM_017025785.1:c.1364dup	XP_016881274.1:p.Ile456AspfsTer7
XM_017025786.1:c.1313dup	XP_016881275.1:p.Ile439AspfsTer7
XM_017025787.1:c.1313dup	XP_016881276.1:p.Ile439AspfsTer7
NM_000271.5:c.1313dup MANE Select	NP_000262.2:p.Ile439AspfsTer7