Canonical Allele Identifier: CA3229021187

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23543504A= , CM000680.2:g.23543504A=	GRCh38
NC_000018.9:g.21123468A= , CM000680.1:g.21123468A=	GRCh37
NC_000018.8:g.19377466A=	NCBI36
NG_012795.1:g.48114T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2196T= MANE Select	NP_000262.2:p.Ala732=
ENST00000269228.10:c.2196T= MANE Select	ENSP00000269228.4:p.Ala732=
NM_000271.4:c.2196T=	NP_000262.2:p.Ala732=
ENST00000269228.9:c.2196T=	ENSP00000269228.4:p.Ala732=
ENST00000540608.5:n.2110T=
ENST00000591051.1:c.1274T=
XM_005258277.1:c.2247T=	XP_005258334.1:p.Ala749=
XM_005258278.3:c.2247T=	XP_005258335.1:p.Ala749=
XM_005258278.5:c.2247T=	XP_005258335.1:p.Ala749=
XM_005258279.1:c.2196T=	XP_005258336.1:p.Ala732=
XM_005258279.2:c.2196T=	XP_005258336.1:p.Ala732=
XM_006722479.2:c.2247T=	XP_006722542.1:p.Ala749=
XM_006722479.3:c.2247T=	XP_006722542.1:p.Ala749=
XM_011526015.1:c.1782T=	XP_011524317.1:p.Ala594=
XM_017025784.1:c.2247T=	XP_016881273.1:p.Ala749=
XM_017025785.1:c.2247T=	XP_016881274.1:p.Ala749=
XM_017025786.1:c.2196T=	XP_016881275.1:p.Ala732=
XM_017025787.1:c.2196T=	XP_016881276.1:p.Ala732=