Canonical Allele Identifier: CA252500

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534445C>T , CM000680.2:g.23534445C>T	GRCh38
NC_000018.9:g.21114409C>T , CM000680.1:g.21114409C>T	GRCh37
NC_000018.8:g.19368407C>T	NCBI36
NG_012795.1:g.57173G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3591+1G>A MANE Select	NP_000262.2:n.3591+1G>A
ENST00000269228.10:c.3591+1G>A MANE Select	ENSP00000269228.4:n.3591+1G>A
NM_000271.4:c.3591+1G>A	NP_000262.2:n.3591+1G>A
ENST00000269228.9:c.3591+1G>A	ENSP00000269228.4:n.3591+1G>A
ENST00000586150.5:c.346+1G>A
ENST00000587163.1:n.115+1G>A
ENST00000588867.1:n.347G>A
ENST00000591051.1:c.2669+1G>A
ENST00000591107.6:c.268+1G>A
XM_005258277.1:c.3642+1G>A	XP_005258334.1:n.3642+1G>A
XM_005258278.3:c.3642+1G>A	XP_005258335.1:n.3642+1G>A
XM_005258278.5:c.3642+1G>A	XP_005258335.1:n.3642+1G>A
XM_005258279.1:c.3591+1G>A	XP_005258336.1:n.3591+1G>A
XM_005258279.2:c.3591+1G>A	XP_005258336.1:n.3591+1G>A
XM_006722479.2:c.3642+1G>A	XP_006722542.1:n.3642+1G>A
XM_006722479.3:c.3642+1G>A	XP_006722542.1:n.3642+1G>A
XM_011526015.1:c.3177+1G>A	XP_011524317.1:n.3177+1G>A
XM_017025784.1:c.3642+1G>A	XP_016881273.1:n.3642+1G>A
XM_017025785.1:c.3642+1G>A	XP_016881274.1:n.3642+1G>A
XM_017025786.1:c.3591+1G>A	XP_016881275.1:n.3591+1G>A
XM_017025787.1:c.3591+1G>A	XP_016881276.1:n.3591+1G>A