Canonical Allele Identifier: CA401790800

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533495G>A , CM000680.2:g.23533495G>A	GRCh38
NC_000018.9:g.21113459G>A , CM000680.1:g.21113459G>A	GRCh37
NC_000018.8:g.19367457G>A	NCBI36
NG_012795.1:g.58123C>T
NG_033119.1:g.35026G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3614C>T MANE Select	NP_000262.2:p.Thr1205Ile
ENST00000269228.10:c.3614C>T MANE Select	ENSP00000269228.4:p.Thr1205Ile
NM_000271.4:c.3614C>T	NP_000262.2:p.Thr1205Ile
ENST00000269228.9:c.3614C>T	ENSP00000269228.4:p.Thr1205Ile
ENST00000586150.5:c.369C>T
ENST00000587163.1:n.138C>T
ENST00000588867.1:n.1297C>T
ENST00000590723.5:c.23C>T	ENSP00000464755.1:p.Thr8Ile
ENST00000591051.1:c.2692C>T
ENST00000591107.6:c.291C>T
XM_005258277.1:c.3665C>T	XP_005258334.1:p.Thr1222Ile
XM_005258278.3:c.3665C>T	XP_005258335.1:p.Thr1222Ile
XM_005258278.5:c.3665C>T	XP_005258335.1:p.Thr1222Ile
XM_005258279.1:c.3614C>T	XP_005258336.1:p.Thr1205Ile
XM_005258279.2:c.3614C>T	XP_005258336.1:p.Thr1205Ile
XM_006722479.2:c.3665C>T	XP_006722542.1:p.Thr1222Ile
XM_006722479.3:c.3665C>T	XP_006722542.1:p.Thr1222Ile
XM_011526015.1:c.3200C>T	XP_011524317.1:p.Thr1067Ile
XM_017025784.1:c.3665C>T	XP_016881273.1:p.Thr1222Ile
XM_017025785.1:c.3665C>T	XP_016881274.1:p.Thr1222Ile
XM_017025786.1:c.3614C>T	XP_016881275.1:p.Thr1205Ile
XM_017025787.1:c.3614C>T	XP_016881276.1:p.Thr1205Ile