Canonical Allele Identifier: CA2290164487

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23536811G= , CM000680.2:g.23536811G=	GRCh38
NC_000018.9:g.21116775G= , CM000680.1:g.21116775G=	GRCh37
NC_000018.8:g.19370773G=	NCBI36
NG_012795.1:g.54807C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3107C= MANE Select	NP_000262.2:p.Thr1036=
ENST00000269228.10:c.3107C= MANE Select	ENSP00000269228.4:p.Thr1036=
NM_000271.4:c.3107C=	NP_000262.2:p.Thr1036=
ENST00000269228.9:c.3107C=	ENSP00000269228.4:p.Thr1036=
ENST00000591051.1:c.2185C=
ENST00000591075.1:n.740C=
ENST00000591955.1:n.450C=
XM_005258277.1:c.3158C=	XP_005258334.1:p.Thr1053=
XM_005258278.3:c.3158C=	XP_005258335.1:p.Thr1053=
XM_005258278.5:c.3158C=	XP_005258335.1:p.Thr1053=
XM_005258279.1:c.3107C=	XP_005258336.1:p.Thr1036=
XM_005258279.2:c.3107C=	XP_005258336.1:p.Thr1036=
XM_006722479.2:c.3158C=	XP_006722542.1:p.Thr1053=
XM_006722479.3:c.3158C=	XP_006722542.1:p.Thr1053=
XM_011526015.1:c.2693C=	XP_011524317.1:p.Thr898=
XM_017025784.1:c.3158C=	XP_016881273.1:p.Thr1053=
XM_017025785.1:c.3158C=	XP_016881274.1:p.Thr1053=
XM_017025786.1:c.3107C=	XP_016881275.1:p.Thr1036=
XM_017025787.1:c.3107C=	XP_016881276.1:p.Thr1036=