Canonical Allele Identifier: CA401791203

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535511C>G , CM000680.2:g.23535511C>G	GRCh38
NC_000018.9:g.21115475C>G , CM000680.1:g.21115475C>G	GRCh37
NC_000018.8:g.19369473C>G	NCBI36
NG_012795.1:g.56107G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3435G>C MANE Select	NP_000262.2:p.Trp1145Cys
ENST00000269228.10:c.3435G>C MANE Select	ENSP00000269228.4:p.Trp1145Cys
NM_000271.4:c.3435G>C	NP_000262.2:p.Trp1145Cys
ENST00000269228.9:c.3435G>C	ENSP00000269228.4:p.Trp1145Cys
ENST00000586150.5:c.190G>C
ENST00000588867.1:n.190G>C
ENST00000591051.1:c.2513G>C
ENST00000591107.6:c.112G>C
XM_005258277.1:c.3486G>C	XP_005258334.1:p.Trp1162Cys
XM_005258278.3:c.3486G>C	XP_005258335.1:p.Trp1162Cys
XM_005258278.5:c.3486G>C	XP_005258335.1:p.Trp1162Cys
XM_005258279.1:c.3435G>C	XP_005258336.1:p.Trp1145Cys
XM_005258279.2:c.3435G>C	XP_005258336.1:p.Trp1145Cys
XM_006722479.2:c.3486G>C	XP_006722542.1:p.Trp1162Cys
XM_006722479.3:c.3486G>C	XP_006722542.1:p.Trp1162Cys
XM_011526015.1:c.3021G>C	XP_011524317.1:p.Trp1007Cys
XM_017025784.1:c.3486G>C	XP_016881273.1:p.Trp1162Cys
XM_017025785.1:c.3486G>C	XP_016881274.1:p.Trp1162Cys
XM_017025786.1:c.3435G>C	XP_016881275.1:p.Trp1145Cys
XM_017025787.1:c.3435G>C	XP_016881276.1:p.Trp1145Cys