Canonical Allele Identifier: CA2580095674

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1705783
• ClinVar RCV Id: RCV002284093
• gnomAD v4: 18-23556330-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556334dup , CM000680.2:g.23556334dup	GRCh38
NC_000018.9:g.21136298dup , CM000680.1:g.21136298dup	GRCh37
NC_000018.8:g.19390296dup	NCBI36
NG_012795.1:g.35287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1238dup MANE Select	ENSP00000269228.4:p.Leu414SerfsTer3
ENST00000269228.9:c.1238dup	ENSP00000269228.4:p.Leu414SerfsTer3
ENST00000540608.5:n.1152dup
ENST00000591051.1:c.520dup
NM_000271.4:c.1238dup	NP_000262.2:p.Leu414SerfsTer3
XM_005258277.1:c.1289dup	XP_005258334.1:p.Leu431SerfsTer3
XM_005258278.3:c.1289dup	XP_005258335.1:p.Leu431SerfsTer3
XM_005258279.1:c.1238dup	XP_005258336.1:p.Leu414SerfsTer3
XM_006722479.2:c.1289dup	XP_006722542.1:p.Leu431SerfsTer3
XM_011526015.1:c.824dup	XP_011524317.1:p.Leu276SerfsTer3
XM_005258278.5:c.1289dup	XP_005258335.1:p.Leu431SerfsTer3
XM_005258279.2:c.1238dup	XP_005258336.1:p.Leu414SerfsTer3
XM_006722479.3:c.1289dup	XP_006722542.1:p.Leu431SerfsTer3
XM_017025784.1:c.1289dup	XP_016881273.1:p.Leu431SerfsTer3
XM_017025785.1:c.1289dup	XP_016881274.1:p.Leu431SerfsTer3
XM_017025786.1:c.1238dup	XP_016881275.1:p.Leu414SerfsTer3
XM_017025787.1:c.1238dup	XP_016881276.1:p.Leu414SerfsTer3
NM_000271.5:c.1238dup MANE Select	NP_000262.2:p.Leu414SerfsTer3