Canonical Allele Identifier: CA401770819

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23543499C>G , CM000680.2:g.23543499C>G	GRCh38
NC_000018.9:g.21123463C>G , CM000680.1:g.21123463C>G	GRCh37
NC_000018.8:g.19377461C>G	NCBI36
NG_012795.1:g.48119G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2201G>C MANE Select	NP_000262.2:p.Ser734Thr
ENST00000269228.10:c.2201G>C MANE Select	ENSP00000269228.4:p.Ser734Thr
NM_000271.4:c.2201G>C	NP_000262.2:p.Ser734Thr
ENST00000269228.9:c.2201G>C	ENSP00000269228.4:p.Ser734Thr
ENST00000540608.5:n.2115G>C
ENST00000591051.1:c.1279G>C
XM_005258277.1:c.2252G>C	XP_005258334.1:p.Ser751Thr
XM_005258278.3:c.2252G>C	XP_005258335.1:p.Ser751Thr
XM_005258278.5:c.2252G>C	XP_005258335.1:p.Ser751Thr
XM_005258279.1:c.2201G>C	XP_005258336.1:p.Ser734Thr
XM_005258279.2:c.2201G>C	XP_005258336.1:p.Ser734Thr
XM_006722479.2:c.2252G>C	XP_006722542.1:p.Ser751Thr
XM_006722479.3:c.2252G>C	XP_006722542.1:p.Ser751Thr
XM_011526015.1:c.1787G>C	XP_011524317.1:p.Ser596Thr
XM_017025784.1:c.2252G>C	XP_016881273.1:p.Ser751Thr
XM_017025785.1:c.2252G>C	XP_016881274.1:p.Ser751Thr
XM_017025786.1:c.2201G>C	XP_016881275.1:p.Ser734Thr
XM_017025787.1:c.2201G>C	XP_016881276.1:p.Ser734Thr