Canonical Allele Identifier: CA2290162810

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533470C= , CM000680.2:g.23533470C=	GRCh38
NC_000018.9:g.21113434C= , CM000680.1:g.21113434C=	GRCh37
NC_000018.8:g.19367432C=	NCBI36
NG_012795.1:g.58148G=
NG_033119.1:g.35001C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3639G= MANE Select	NP_000262.2:p.Leu1213=
ENST00000269228.10:c.3639G= MANE Select	ENSP00000269228.4:p.Leu1213=
NM_000271.4:c.3639G=	NP_000262.2:p.Leu1213=
ENST00000269228.9:c.3639G=	ENSP00000269228.4:p.Leu1213=
ENST00000586150.5:c.394G=
ENST00000587163.1:n.163G=
ENST00000588867.1:n.1322G=
ENST00000590723.5:c.48G=	ENSP00000464755.1:p.Leu16=
ENST00000591051.1:c.2717G=
ENST00000591107.6:c.316G=
XM_005258277.1:c.3690G=	XP_005258334.1:p.Leu1230=
XM_005258278.3:c.3690G=	XP_005258335.1:p.Leu1230=
XM_005258278.5:c.3690G=	XP_005258335.1:p.Leu1230=
XM_005258279.1:c.3639G=	XP_005258336.1:p.Leu1213=
XM_005258279.2:c.3639G=	XP_005258336.1:p.Leu1213=
XM_006722479.2:c.3690G=	XP_006722542.1:p.Leu1230=
XM_006722479.3:c.3690G=	XP_006722542.1:p.Leu1230=
XM_011526015.1:c.3225G=	XP_011524317.1:p.Leu1075=
XM_017025784.1:c.3690G=	XP_016881273.1:p.Leu1230=
XM_017025785.1:c.3690G=	XP_016881274.1:p.Leu1230=
XM_017025786.1:c.3639G=	XP_016881275.1:p.Leu1213=
XM_017025787.1:c.3639G=	XP_016881276.1:p.Leu1213=