Canonical Allele Identifier: CA269820

Gene: NPC1

Linked Data

• ClinVar Variation Id: 132891
• ClinVar RCV Id: RCV000119328
• dbSNP Id: rs483352879
• MyVariant Identifiers: chr18:g.21125071del (hg19) ; chr18:g.23545107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23545108del , CM000680.2:g.23545108del	GRCh38
NC_000018.9:g.21125072del , CM000680.1:g.21125072del	GRCh37
NC_000018.8:g.19379070del	NCBI36
NG_012795.1:g.46511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1800del MANE Select	ENSP00000269228.4:p.Ile601PhefsTer13
ENST00000269228.9:c.1800del	ENSP00000269228.4:p.Ile601PhefsTer13
ENST00000540608.5:n.1714del
ENST00000591051.1:c.878del
NM_000271.4:c.1800del	NP_000262.2:p.Ile601PhefsTer13
XM_005258277.1:c.1851del	XP_005258334.1:p.Ile618PhefsTer13
XM_005258278.3:c.1851del	XP_005258335.1:p.Ile618PhefsTer13
XM_005258279.1:c.1800del	XP_005258336.1:p.Ile601PhefsTer13
XM_006722479.2:c.1851del	XP_006722542.1:p.Ile618PhefsTer13
XM_011526015.1:c.1386del	XP_011524317.1:p.Ile463PhefsTer13
XM_005258278.5:c.1851del	XP_005258335.1:p.Ile618PhefsTer13
XM_005258279.2:c.1800del	XP_005258336.1:p.Ile601PhefsTer13
XM_006722479.3:c.1851del	XP_006722542.1:p.Ile618PhefsTer13
XM_017025784.1:c.1851del	XP_016881273.1:p.Ile618PhefsTer13
XM_017025785.1:c.1851del	XP_016881274.1:p.Ile618PhefsTer13
XM_017025786.1:c.1800del	XP_016881275.1:p.Ile601PhefsTer13
XM_017025787.1:c.1800del	XP_016881276.1:p.Ile601PhefsTer13
NM_000271.5:c.1800del MANE Select	NP_000262.2:p.Ile601PhefsTer13