Canonical Allele Identifier: CA14531231

Gene: NPC1

Linked Data

• dbSNP Id: rs1429934
• gnomAD v2: 18-21162288-C-T
• gnomAD v3: 18-23582324-C-T
• gnomAD v4: 18-23582324-C-T
• MyVariant Identifiers: chr18:g.21162288C>T (hg19) ; chr18:g.23582324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23582324C>T , CM000680.2:g.23582324C>T	GRCh38
NC_000018.9:g.21162288C>T , CM000680.1:g.21162288C>T	GRCh37
NC_000018.8:g.19416286C>T	NCBI36
NG_012795.1:g.9294G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.57+3963G>A MANE Select	ENSP00000269228.4:n.57+3963G>A
ENST00000269228.9:c.57+3963G>A	ENSP00000269228.4:n.57+3963G>A
ENST00000540608.5:n.201+3963G>A
NM_000271.4:c.57+3963G>A	NP_000262.2:n.57+3963G>A
XM_005258277.1:c.57+3963G>A	XP_005258334.1:n.57+3963G>A
XM_005258278.3:c.57+3963G>A	XP_005258335.1:n.57+3963G>A
XM_005258279.1:c.57+3963G>A	XP_005258336.1:n.57+3963G>A
XM_006722479.2:c.57+3963G>A	XP_006722542.1:n.57+3963G>A
XM_005258278.5:c.57+3963G>A	XP_005258335.1:n.57+3963G>A
XM_005258279.2:c.57+3963G>A	XP_005258336.1:n.57+3963G>A
XM_006722479.3:c.57+3963G>A	XP_006722542.1:n.57+3963G>A
XM_017025784.1:c.57+3963G>A	XP_016881273.1:n.57+3963G>A
XM_017025785.1:c.57+3963G>A	XP_016881274.1:n.57+3963G>A
XM_017025786.1:c.57+3963G>A	XP_016881275.1:n.57+3963G>A
XM_017025787.1:c.57+3963G>A	XP_016881276.1:n.57+3963G>A
NM_000271.5:c.57+3963G>A MANE Select	NP_000262.2:n.57+3963G>A