Canonical Allele Identifier: CA8912848

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23536759G>A , CM000680.2:g.23536759G>A	GRCh38
NC_000018.9:g.21116723G>A , CM000680.1:g.21116723G>A	GRCh37
NC_000018.8:g.19370721G>A	NCBI36
NG_012795.1:g.54859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3159C>T MANE Select	NP_000262.2:p.Asp1053=
ENST00000269228.10:c.3159C>T MANE Select	ENSP00000269228.4:p.Asp1053=
NM_000271.4:c.3159C>T	NP_000262.2:p.Asp1053=
ENST00000269228.9:c.3159C>T	ENSP00000269228.4:p.Asp1053=
ENST00000591051.1:c.2237C>T
ENST00000591075.1:n.792C>T
ENST00000591955.1:n.502C>T
XM_005258277.1:c.3210C>T	XP_005258334.1:p.Asp1070=
XM_005258278.3:c.3210C>T	XP_005258335.1:p.Asp1070=
XM_005258278.5:c.3210C>T	XP_005258335.1:p.Asp1070=
XM_005258279.1:c.3159C>T	XP_005258336.1:p.Asp1053=
XM_005258279.2:c.3159C>T	XP_005258336.1:p.Asp1053=
XM_006722479.2:c.3210C>T	XP_006722542.1:p.Asp1070=
XM_006722479.3:c.3210C>T	XP_006722542.1:p.Asp1070=
XM_011526015.1:c.2745C>T	XP_011524317.1:p.Asp915=
XM_017025784.1:c.3210C>T	XP_016881273.1:p.Asp1070=
XM_017025785.1:c.3210C>T	XP_016881274.1:p.Asp1070=
XM_017025786.1:c.3159C>T	XP_016881275.1:p.Asp1053=
XM_017025787.1:c.3159C>T	XP_016881276.1:p.Asp1053=