Canonical Allele Identifier: CA242285

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534509C>T , CM000680.2:g.23534509C>T	GRCh38
NC_000018.9:g.21114473C>T , CM000680.1:g.21114473C>T	GRCh37
NC_000018.8:g.19368471C>T	NCBI36
NG_012795.1:g.57109G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3528G>A MANE Select	NP_000262.2:p.Thr1176=
ENST00000269228.10:c.3528G>A MANE Select	ENSP00000269228.4:p.Thr1176=
NM_000271.4:c.3528G>A	NP_000262.2:p.Thr1176=
ENST00000269228.9:c.3528G>A	ENSP00000269228.4:p.Thr1176=
ENST00000586150.5:c.283G>A
ENST00000587163.1:n.52G>A
ENST00000588867.1:n.283G>A
ENST00000591051.1:c.2606G>A
ENST00000591107.6:c.205G>A
XM_005258277.1:c.3579G>A	XP_005258334.1:p.Thr1193=
XM_005258278.3:c.3579G>A	XP_005258335.1:p.Thr1193=
XM_005258278.5:c.3579G>A	XP_005258335.1:p.Thr1193=
XM_005258279.1:c.3528G>A	XP_005258336.1:p.Thr1176=
XM_005258279.2:c.3528G>A	XP_005258336.1:p.Thr1176=
XM_006722479.2:c.3579G>A	XP_006722542.1:p.Thr1193=
XM_006722479.3:c.3579G>A	XP_006722542.1:p.Thr1193=
XM_011526015.1:c.3114G>A	XP_011524317.1:p.Thr1038=
XM_017025784.1:c.3579G>A	XP_016881273.1:p.Thr1193=
XM_017025785.1:c.3579G>A	XP_016881274.1:p.Thr1193=
XM_017025786.1:c.3528G>A	XP_016881275.1:p.Thr1176=
XM_017025787.1:c.3528G>A	XP_016881276.1:p.Thr1176=