Canonical Allele Identifier: CA8912680

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533392G>A , CM000680.2:g.23533392G>A	GRCh38
NC_000018.9:g.21113356G>A , CM000680.1:g.21113356G>A	GRCh37
NC_000018.8:g.19367354G>A	NCBI36
NG_012795.1:g.58226C>T
NG_033119.1:g.34923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3717C>T MANE Select	ENSP00000269228.4:p.His1239=
ENST00000269228.9:c.3717C>T	ENSP00000269228.4:p.His1239=
ENST00000586150.5:c.472C>T
ENST00000587163.1:n.241C>T
ENST00000588867.1:n.1400C>T
ENST00000590723.5:c.126C>T	ENSP00000464755.1:p.His42=
ENST00000591051.1:c.2795C>T
ENST00000591107.6:c.394C>T
ENST00000593280.2:c.49C>T
NM_000271.4:c.3717C>T	NP_000262.2:p.His1239=
XM_005258277.1:c.3768C>T	XP_005258334.1:p.His1256=
XM_005258278.3:c.3768C>T	XP_005258335.1:p.His1256=
XM_005258279.1:c.3717C>T	XP_005258336.1:p.His1239=
XM_006722479.2:c.3768C>T	XP_006722542.1:p.His1256=
XM_011526015.1:c.3303C>T	XP_011524317.1:p.His1101=
XM_005258278.5:c.3768C>T	XP_005258335.1:p.His1256=
XM_005258279.2:c.3717C>T	XP_005258336.1:p.His1239=
XM_006722479.3:c.3768C>T	XP_006722542.1:p.His1256=
XM_017025784.1:c.3768C>T	XP_016881273.1:p.His1256=
XM_017025785.1:c.3768C>T	XP_016881274.1:p.His1256=
XM_017025786.1:c.3717C>T	XP_016881275.1:p.His1239=
XM_017025787.1:c.3717C>T	XP_016881276.1:p.His1239=
NM_000271.5:c.3717C>T MANE Select	NP_000262.2:p.His1239=