Canonical Allele Identifier: CA503521736

Gene: NPC1

Linked Data

• dbSNP Id: rs373245725
• gnomAD v2: 18-21115586-C-A
• gnomAD v4: 18-23535622-C-A
• MyVariant Identifiers: chr18:g.21115586C>A (hg19) ; chr18:g.23535622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535622C>A , CM000680.2:g.23535622C>A	GRCh38
NC_000018.9:g.21115586C>A , CM000680.1:g.21115586C>A	GRCh37
NC_000018.8:g.19369584C>A	NCBI36
NG_012795.1:g.55996G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3324G>T MANE Select	ENSP00000269228.4:p.Ala1108=
ENST00000269228.9:c.3324G>T	ENSP00000269228.4:p.Ala1108=
ENST00000586150.5:c.79G>T
ENST00000588867.1:n.79G>T
ENST00000591051.1:c.2402G>T
ENST00000591107.6:c.1G>T
NM_000271.4:c.3324G>T	NP_000262.2:p.Ala1108=
XM_005258277.1:c.3375G>T	XP_005258334.1:p.Ala1125=
XM_005258278.3:c.3375G>T	XP_005258335.1:p.Ala1125=
XM_005258279.1:c.3324G>T	XP_005258336.1:p.Ala1108=
XM_006722479.2:c.3375G>T	XP_006722542.1:p.Ala1125=
XM_011526015.1:c.2910G>T	XP_011524317.1:p.Ala970=
XM_005258278.5:c.3375G>T	XP_005258335.1:p.Ala1125=
XM_005258279.2:c.3324G>T	XP_005258336.1:p.Ala1108=
XM_006722479.3:c.3375G>T	XP_006722542.1:p.Ala1125=
XM_017025784.1:c.3375G>T	XP_016881273.1:p.Ala1125=
XM_017025785.1:c.3375G>T	XP_016881274.1:p.Ala1125=
XM_017025786.1:c.3324G>T	XP_016881275.1:p.Ala1108=
XM_017025787.1:c.3324G>T	XP_016881276.1:p.Ala1108=
NM_000271.5:c.3324G>T MANE Select	NP_000262.2:p.Ala1108=