Canonical Allele Identifier: CA2290165354

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538571C= , CM000680.2:g.23538571C=	GRCh38
NC_000018.9:g.21118535C= , CM000680.1:g.21118535C=	GRCh37
NC_000018.8:g.19372533C=	NCBI36
NG_012795.1:g.53047G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3012G= MANE Select	ENSP00000269228.4:p.Ser1004=
ENST00000269228.9:c.3012G=	ENSP00000269228.4:p.Ser1004=
ENST00000591051.1:c.2090G=
ENST00000591075.1:n.645G=
ENST00000591955.1:n.355G=
NM_000271.4:c.3012G=	NP_000262.2:p.Ser1004=
XM_005258277.1:c.3063G=	XP_005258334.1:p.Ser1021=
XM_005258278.3:c.3063G=	XP_005258335.1:p.Ser1021=
XM_005258279.1:c.3012G=	XP_005258336.1:p.Ser1004=
XM_006722479.2:c.3063G=	XP_006722542.1:p.Ser1021=
XM_011526015.1:c.2598G=	XP_011524317.1:p.Ser866=
XM_005258278.5:c.3063G=	XP_005258335.1:p.Ser1021=
XM_005258279.2:c.3012G=	XP_005258336.1:p.Ser1004=
XM_006722479.3:c.3063G=	XP_006722542.1:p.Ser1021=
XM_017025784.1:c.3063G=	XP_016881273.1:p.Ser1021=
XM_017025785.1:c.3063G=	XP_016881274.1:p.Ser1021=
XM_017025786.1:c.3012G=	XP_016881275.1:p.Ser1004=
XM_017025787.1:c.3012G=	XP_016881276.1:p.Ser1004=
NM_000271.5:c.3012G= MANE Select	NP_000262.2:p.Ser1004=