Canonical Allele Identifier: CA8912926

Gene: NPC1

Linked Data

• dbSNP Id: rs757229406
• ExAC: 18:21119290 C / T
• gnomAD v2: 18-21119290-C-T
• gnomAD v4: 18-23539326-C-T
• MyVariant Identifiers: chr18:g.21119290C>T (hg19) ; chr18:g.23539326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539326C>T , CM000680.2:g.23539326C>T	GRCh38
NC_000018.9:g.21119290C>T , CM000680.1:g.21119290C>T	GRCh37
NC_000018.8:g.19373288C>T	NCBI36
NG_012795.1:g.52292G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2911+29G>A MANE Select	ENSP00000269228.4:n.2911+29G>A
ENST00000269228.9:c.2911+29G>A	ENSP00000269228.4:n.2911+29G>A
ENST00000591051.1:c.1989+29G>A
ENST00000591075.1:n.544+29G>A
NM_000271.4:c.2911+29G>A	NP_000262.2:n.2911+29G>A
XM_005258277.1:c.2962+29G>A	XP_005258334.1:n.2962+29G>A
XM_005258278.3:c.2962+29G>A	XP_005258335.1:n.2962+29G>A
XM_005258279.1:c.2911+29G>A	XP_005258336.1:n.2911+29G>A
XM_006722479.2:c.2962+29G>A	XP_006722542.1:n.2962+29G>A
XM_011526015.1:c.2497+29G>A	XP_011524317.1:n.2497+29G>A
XM_005258278.5:c.2962+29G>A	XP_005258335.1:n.2962+29G>A
XM_005258279.2:c.2911+29G>A	XP_005258336.1:n.2911+29G>A
XM_006722479.3:c.2962+29G>A	XP_006722542.1:n.2962+29G>A
XM_017025784.1:c.2962+29G>A	XP_016881273.1:n.2962+29G>A
XM_017025785.1:c.2962+29G>A	XP_016881274.1:n.2962+29G>A
XM_017025786.1:c.2911+29G>A	XP_016881275.1:n.2911+29G>A
XM_017025787.1:c.2911+29G>A	XP_016881276.1:n.2911+29G>A
NM_000271.5:c.2911+29G>A MANE Select	NP_000262.2:n.2911+29G>A