Canonical Allele Identifier: CA401792261

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538627C>T , CM000680.2:g.23538627C>T	GRCh38
NC_000018.9:g.21118591C>T , CM000680.1:g.21118591C>T	GRCh37
NC_000018.8:g.19372589C>T	NCBI36
NG_012795.1:g.52991G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.2956G>A MANE Select	NP_000262.2:p.Gly986Ser
ENST00000269228.10:c.2956G>A MANE Select	ENSP00000269228.4:p.Gly986Ser
NM_000271.4:c.2956G>A	NP_000262.2:p.Gly986Ser
ENST00000269228.9:c.2956G>A	ENSP00000269228.4:p.Gly986Ser
ENST00000591051.1:c.2034G>A
ENST00000591075.1:n.589G>A
ENST00000591955.1:n.299G>A
XM_005258277.1:c.3007G>A	XP_005258334.1:p.Gly1003Ser
XM_005258278.3:c.3007G>A	XP_005258335.1:p.Gly1003Ser
XM_005258278.5:c.3007G>A	XP_005258335.1:p.Gly1003Ser
XM_005258279.1:c.2956G>A	XP_005258336.1:p.Gly986Ser
XM_005258279.2:c.2956G>A	XP_005258336.1:p.Gly986Ser
XM_006722479.2:c.3007G>A	XP_006722542.1:p.Gly1003Ser
XM_006722479.3:c.3007G>A	XP_006722542.1:p.Gly1003Ser
XM_011526015.1:c.2542G>A	XP_011524317.1:p.Gly848Ser
XM_017025784.1:c.3007G>A	XP_016881273.1:p.Gly1003Ser
XM_017025785.1:c.3007G>A	XP_016881274.1:p.Gly1003Ser
XM_017025786.1:c.2956G>A	XP_016881275.1:p.Gly986Ser
XM_017025787.1:c.2956G>A	XP_016881276.1:p.Gly986Ser