Canonical Allele Identifier: CA2290173649

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556254T= , CM000680.2:g.23556254T=	GRCh38
NC_000018.9:g.21136218T= , CM000680.1:g.21136218T=	GRCh37
NC_000018.8:g.19390216T=	NCBI36
NG_012795.1:g.35364A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1315A= MANE Select	ENSP00000269228.4:p.Ile439=
ENST00000269228.9:c.1315A=	ENSP00000269228.4:p.Ile439=
ENST00000540608.5:n.1229A=
ENST00000591051.1:c.597A=
NM_000271.4:c.1315A=	NP_000262.2:p.Ile439=
XM_005258277.1:c.1366A=	XP_005258334.1:p.Ile456=
XM_005258278.3:c.1366A=	XP_005258335.1:p.Ile456=
XM_005258279.1:c.1315A=	XP_005258336.1:p.Ile439=
XM_006722479.2:c.1366A=	XP_006722542.1:p.Ile456=
XM_011526015.1:c.901A=	XP_011524317.1:p.Ile301=
XM_005258278.5:c.1366A=	XP_005258335.1:p.Ile456=
XM_005258279.2:c.1315A=	XP_005258336.1:p.Ile439=
XM_006722479.3:c.1366A=	XP_006722542.1:p.Ile456=
XM_017025784.1:c.1366A=	XP_016881273.1:p.Ile456=
XM_017025785.1:c.1366A=	XP_016881274.1:p.Ile456=
XM_017025786.1:c.1315A=	XP_016881275.1:p.Ile439=
XM_017025787.1:c.1315A=	XP_016881276.1:p.Ile439=
NM_000271.5:c.1315A= MANE Select	NP_000262.2:p.Ile439=