Canonical Allele Identifier: CA503321915

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1947051
• ClinVar RCV Id: RCV002654181
• dbSNP Id: rs2058537788
• gnomAD v3: 18-23532283-C-T
• gnomAD v4: 18-23532283-C-T
• MyVariant Identifiers: chr18:g.21112247C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532283C>T , CM000680.2:g.23532283C>T	GRCh38
NC_000018.9:g.21112247C>T , CM000680.1:g.21112247C>T	GRCh37
NC_000018.8:g.19366245C>T	NCBI36
NG_012795.1:g.59335G>A
NG_033119.1:g.33814C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3756G>A MANE Select	ENSP00000269228.4:p.Gly1252=
ENST00000269228.9:c.3756G>A	ENSP00000269228.4:p.Gly1252=
ENST00000586150.5:c.509+1072G>A
ENST00000588867.1:n.1439G>A
ENST00000590723.5:c.163+1072G>A	ENSP00000464755.1:n.163+1072G>A
ENST00000591051.1:c.2834G>A
ENST00000591107.6:c.431+1072G>A
ENST00000593280.2:c.86+1072G>A
NM_000271.4:c.3756G>A	NP_000262.2:p.Gly1252=
XM_005258277.1:c.3805+1072G>A	XP_005258334.1:n.3805+1072G>A
XM_005258278.3:c.3807G>A	XP_005258335.1:p.Gly1269=
XM_005258279.1:c.3754+1072G>A	XP_005258336.1:n.3754+1072G>A
XM_006722479.2:c.3805+1072G>A	XP_006722542.1:n.3805+1072G>A
XM_011526015.1:c.3340+1072G>A	XP_011524317.1:n.3340+1072G>A
XM_005258278.5:c.3807G>A	XP_005258335.1:p.Gly1269=
XM_005258279.2:c.3754+1072G>A	XP_005258336.1:n.3754+1072G>A
XM_006722479.3:c.3805+1072G>A	XP_006722542.1:n.3805+1072G>A
XM_017025784.1:c.3805+1072G>A	XP_016881273.1:n.3805+1072G>A
XM_017025785.1:c.3805+1072G>A	XP_016881274.1:n.3805+1072G>A
XM_017025786.1:c.3754+1072G>A	XP_016881275.1:n.3754+1072G>A
XM_017025787.1:c.3754+1072G>A	XP_016881276.1:n.3754+1072G>A
NM_000271.5:c.3756G>A MANE Select	NP_000262.2:p.Gly1252=