Canonical Allele Identifier: CA401791059

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534539C>A , CM000680.2:g.23534539C>A	GRCh38
NC_000018.9:g.21114503C>A , CM000680.1:g.21114503C>A	GRCh37
NC_000018.8:g.19368501C>A	NCBI36
NG_012795.1:g.57079G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3498G>T MANE Select	NP_000262.2:p.Glu1166Asp
ENST00000269228.10:c.3498G>T MANE Select	ENSP00000269228.4:p.Glu1166Asp
NM_000271.4:c.3498G>T	NP_000262.2:p.Glu1166Asp
ENST00000269228.9:c.3498G>T	ENSP00000269228.4:p.Glu1166Asp
ENST00000586150.5:c.253G>T
ENST00000587163.1:n.22G>T
ENST00000588867.1:n.253G>T
ENST00000591051.1:c.2576G>T
ENST00000591107.6:c.175G>T
XM_005258277.1:c.3549G>T	XP_005258334.1:p.Glu1183Asp
XM_005258278.3:c.3549G>T	XP_005258335.1:p.Glu1183Asp
XM_005258278.5:c.3549G>T	XP_005258335.1:p.Glu1183Asp
XM_005258279.1:c.3498G>T	XP_005258336.1:p.Glu1166Asp
XM_005258279.2:c.3498G>T	XP_005258336.1:p.Glu1166Asp
XM_006722479.2:c.3549G>T	XP_006722542.1:p.Glu1183Asp
XM_006722479.3:c.3549G>T	XP_006722542.1:p.Glu1183Asp
XM_011526015.1:c.3084G>T	XP_011524317.1:p.Glu1028Asp
XM_017025784.1:c.3549G>T	XP_016881273.1:p.Glu1183Asp
XM_017025785.1:c.3549G>T	XP_016881274.1:p.Glu1183Asp
XM_017025786.1:c.3498G>T	XP_016881275.1:p.Glu1166Asp
XM_017025787.1:c.3498G>T	XP_016881276.1:p.Glu1166Asp