Canonical Allele Identifier: CA242284

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534544C>T , CM000680.2:g.23534544C>T	GRCh38
NC_000018.9:g.21114508C>T , CM000680.1:g.21114508C>T	GRCh37
NC_000018.8:g.19368506C>T	NCBI36
NG_012795.1:g.57074G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3493G>A MANE Select	NP_000262.2:p.Val1165Met
ENST00000269228.10:c.3493G>A MANE Select	ENSP00000269228.4:p.Val1165Met
NM_000271.4:c.3493G>A	NP_000262.2:p.Val1165Met
ENST00000269228.9:c.3493G>A	ENSP00000269228.4:p.Val1165Met
ENST00000586150.5:c.248G>A
ENST00000587163.1:n.17G>A
ENST00000588867.1:n.248G>A
ENST00000591051.1:c.2571G>A
ENST00000591107.6:c.170G>A
XM_005258277.1:c.3544G>A	XP_005258334.1:p.Val1182Met
XM_005258278.3:c.3544G>A	XP_005258335.1:p.Val1182Met
XM_005258278.5:c.3544G>A	XP_005258335.1:p.Val1182Met
XM_005258279.1:c.3493G>A	XP_005258336.1:p.Val1165Met
XM_005258279.2:c.3493G>A	XP_005258336.1:p.Val1165Met
XM_006722479.2:c.3544G>A	XP_006722542.1:p.Val1182Met
XM_006722479.3:c.3544G>A	XP_006722542.1:p.Val1182Met
XM_011526015.1:c.3079G>A	XP_011524317.1:p.Val1027Met
XM_017025784.1:c.3544G>A	XP_016881273.1:p.Val1182Met
XM_017025785.1:c.3544G>A	XP_016881274.1:p.Val1182Met
XM_017025786.1:c.3493G>A	XP_016881275.1:p.Val1165Met
XM_017025787.1:c.3493G>A	XP_016881276.1:p.Val1165Met