Canonical Allele Identifier: CA401790672

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533437G>T , CM000680.2:g.23533437G>T	GRCh38
NC_000018.9:g.21113401G>T , CM000680.1:g.21113401G>T	GRCh37
NC_000018.8:g.19367399G>T	NCBI36
NG_012795.1:g.58181C>A
NG_033119.1:g.34968G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3672C>A MANE Select	NP_000262.2:p.Phe1224Leu
ENST00000269228.10:c.3672C>A MANE Select	ENSP00000269228.4:p.Phe1224Leu
NM_000271.4:c.3672C>A	NP_000262.2:p.Phe1224Leu
ENST00000269228.9:c.3672C>A	ENSP00000269228.4:p.Phe1224Leu
ENST00000586150.5:c.427C>A
ENST00000587163.1:n.196C>A
ENST00000588867.1:n.1355C>A
ENST00000590723.5:c.81C>A	ENSP00000464755.1:p.Phe27Leu
ENST00000591051.1:c.2750C>A
ENST00000591107.6:c.349C>A
ENST00000593280.2:c.4C>A
XM_005258277.1:c.3723C>A	XP_005258334.1:p.Phe1241Leu
XM_005258278.3:c.3723C>A	XP_005258335.1:p.Phe1241Leu
XM_005258278.5:c.3723C>A	XP_005258335.1:p.Phe1241Leu
XM_005258279.1:c.3672C>A	XP_005258336.1:p.Phe1224Leu
XM_005258279.2:c.3672C>A	XP_005258336.1:p.Phe1224Leu
XM_006722479.2:c.3723C>A	XP_006722542.1:p.Phe1241Leu
XM_006722479.3:c.3723C>A	XP_006722542.1:p.Phe1241Leu
XM_011526015.1:c.3258C>A	XP_011524317.1:p.Phe1086Leu
XM_017025784.1:c.3723C>A	XP_016881273.1:p.Phe1241Leu
XM_017025785.1:c.3723C>A	XP_016881274.1:p.Phe1241Leu
XM_017025786.1:c.3672C>A	XP_016881275.1:p.Phe1224Leu
XM_017025787.1:c.3672C>A	XP_016881276.1:p.Phe1224Leu