Canonical Allele Identifier: CA401791048

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534535A>G , CM000680.2:g.23534535A>G	GRCh38
NC_000018.9:g.21114499A>G , CM000680.1:g.21114499A>G	GRCh37
NC_000018.8:g.19368497A>G	NCBI36
NG_012795.1:g.57083T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3502T>C MANE Select	NP_000262.2:p.Cys1168Arg
ENST00000269228.10:c.3502T>C MANE Select	ENSP00000269228.4:p.Cys1168Arg
NM_000271.4:c.3502T>C	NP_000262.2:p.Cys1168Arg
ENST00000269228.9:c.3502T>C	ENSP00000269228.4:p.Cys1168Arg
ENST00000586150.5:c.257T>C
ENST00000587163.1:n.26T>C
ENST00000588867.1:n.257T>C
ENST00000591051.1:c.2580T>C
ENST00000591107.6:c.179T>C
XM_005258277.1:c.3553T>C	XP_005258334.1:p.Cys1185Arg
XM_005258278.3:c.3553T>C	XP_005258335.1:p.Cys1185Arg
XM_005258278.5:c.3553T>C	XP_005258335.1:p.Cys1185Arg
XM_005258279.1:c.3502T>C	XP_005258336.1:p.Cys1168Arg
XM_005258279.2:c.3502T>C	XP_005258336.1:p.Cys1168Arg
XM_006722479.2:c.3553T>C	XP_006722542.1:p.Cys1185Arg
XM_006722479.3:c.3553T>C	XP_006722542.1:p.Cys1185Arg
XM_011526015.1:c.3088T>C	XP_011524317.1:p.Cys1030Arg
XM_017025784.1:c.3553T>C	XP_016881273.1:p.Cys1185Arg
XM_017025785.1:c.3553T>C	XP_016881274.1:p.Cys1185Arg
XM_017025786.1:c.3502T>C	XP_016881275.1:p.Cys1168Arg
XM_017025787.1:c.3502T>C	XP_016881276.1:p.Cys1168Arg