Canonical Allele Identifier: CA2290169759

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23548062G= , CM000680.2:g.23548062G=	GRCh38
NC_000018.9:g.21128026G= , CM000680.1:g.21128026G=	GRCh37
NC_000018.8:g.19382024G=	NCBI36
NG_012795.1:g.43556C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1701C= MANE Select	ENSP00000269228.4:p.Val567=
ENST00000269228.9:c.1701C=	ENSP00000269228.4:p.Val567=
ENST00000540608.5:n.1615C=
ENST00000591051.1:c.836-2913C=
NM_000271.4:c.1701C=	NP_000262.2:p.Val567=
XM_005258277.1:c.1752C=	XP_005258334.1:p.Val584=
XM_005258278.3:c.1752C=	XP_005258335.1:p.Val584=
XM_005258279.1:c.1701C=	XP_005258336.1:p.Val567=
XM_006722479.2:c.1752C=	XP_006722542.1:p.Val584=
XM_011526015.1:c.1287C=	XP_011524317.1:p.Val429=
XM_005258278.5:c.1752C=	XP_005258335.1:p.Val584=
XM_005258279.2:c.1701C=	XP_005258336.1:p.Val567=
XM_006722479.3:c.1752C=	XP_006722542.1:p.Val584=
XM_017025784.1:c.1752C=	XP_016881273.1:p.Val584=
XM_017025785.1:c.1752C=	XP_016881274.1:p.Val584=
XM_017025786.1:c.1701C=	XP_016881275.1:p.Val567=
XM_017025787.1:c.1701C=	XP_016881276.1:p.Val567=
NM_000271.5:c.1701C= MANE Select	NP_000262.2:p.Val567=