Canonical Allele Identifier: CA273905

Gene: NPC1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3614C>A MANE Select	NP_000262.2:p.Thr1205Lys
ENST00000269228.10:c.3614C>A MANE Select	ENSP00000269228.4:p.Thr1205Lys
NM_000271.4:c.3614C>A	NP_000262.2:p.Thr1205Lys
ENST00000269228.9:c.3614C>A	ENSP00000269228.4:p.Thr1205Lys
ENST00000586150.5:c.369C>A
ENST00000587163.1:n.138C>A
ENST00000588867.1:n.1297C>A
ENST00000590723.5:c.23C>A	ENSP00000464755.1:p.Thr8Lys
ENST00000591051.1:c.2692C>A
ENST00000591107.6:c.291C>A
XM_005258277.1:c.3665C>A	XP_005258334.1:p.Thr1222Lys
XM_005258278.3:c.3665C>A	XP_005258335.1:p.Thr1222Lys
XM_005258278.5:c.3665C>A	XP_005258335.1:p.Thr1222Lys
XM_005258279.1:c.3614C>A	XP_005258336.1:p.Thr1205Lys
XM_005258279.2:c.3614C>A	XP_005258336.1:p.Thr1205Lys
XM_006722479.2:c.3665C>A	XP_006722542.1:p.Thr1222Lys
XM_006722479.3:c.3665C>A	XP_006722542.1:p.Thr1222Lys
XM_011526015.1:c.3200C>A	XP_011524317.1:p.Thr1067Lys
XM_017025784.1:c.3665C>A	XP_016881273.1:p.Thr1222Lys
XM_017025785.1:c.3665C>A	XP_016881274.1:p.Thr1222Lys
XM_017025786.1:c.3614C>A	XP_016881275.1:p.Thr1205Lys
XM_017025787.1:c.3614C>A	XP_016881276.1:p.Thr1205Lys