Canonical Allele Identifier: CA8913517

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1502092
• ClinVar RCV Id: RCV002045088
• dbSNP Id: rs763166048
• ExAC: 18:21136318 C / T
• gnomAD v2: 18-21136318-C-T
• gnomAD v3: 18-23556354-C-T
• gnomAD v4: 18-23556354-C-T
• MyVariant Identifiers: chr18:g.21136318C>T (hg19) ; chr18:g.23556354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556354C>T , CM000680.2:g.23556354C>T	GRCh38
NC_000018.9:g.21136318C>T , CM000680.1:g.21136318C>T	GRCh37
NC_000018.8:g.19390316C>T	NCBI36
NG_012795.1:g.35264G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1215G>A MANE Select	ENSP00000269228.4:p.Thr405=
ENST00000269228.9:c.1215G>A	ENSP00000269228.4:p.Thr405=
ENST00000540608.5:n.1129G>A
ENST00000591051.1:c.497G>A
NM_000271.4:c.1215G>A	NP_000262.2:p.Thr405=
XM_005258277.1:c.1266G>A	XP_005258334.1:p.Thr422=
XM_005258278.3:c.1266G>A	XP_005258335.1:p.Thr422=
XM_005258279.1:c.1215G>A	XP_005258336.1:p.Thr405=
XM_006722479.2:c.1266G>A	XP_006722542.1:p.Thr422=
XM_011526015.1:c.801G>A	XP_011524317.1:p.Thr267=
XM_005258278.5:c.1266G>A	XP_005258335.1:p.Thr422=
XM_005258279.2:c.1215G>A	XP_005258336.1:p.Thr405=
XM_006722479.3:c.1266G>A	XP_006722542.1:p.Thr422=
XM_017025784.1:c.1266G>A	XP_016881273.1:p.Thr422=
XM_017025785.1:c.1266G>A	XP_016881274.1:p.Thr422=
XM_017025786.1:c.1215G>A	XP_016881275.1:p.Thr405=
XM_017025787.1:c.1215G>A	XP_016881276.1:p.Thr405=
NM_000271.5:c.1215G>A MANE Select	NP_000262.2:p.Thr405=