Canonical Allele Identifier: CA8912686

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533472A>C , CM000680.2:g.23533472A>C	GRCh38
NC_000018.9:g.21113436A>C , CM000680.1:g.21113436A>C	GRCh37
NC_000018.8:g.19367434A>C	NCBI36
NG_012795.1:g.58146T>G
NG_033119.1:g.35003A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3637T>G MANE Select	NP_000262.2:p.Leu1213Val
ENST00000269228.10:c.3637T>G MANE Select	ENSP00000269228.4:p.Leu1213Val
NM_000271.4:c.3637T>G	NP_000262.2:p.Leu1213Val
ENST00000269228.9:c.3637T>G	ENSP00000269228.4:p.Leu1213Val
ENST00000586150.5:c.392T>G
ENST00000587163.1:n.161T>G
ENST00000588867.1:n.1320T>G
ENST00000590723.5:c.46T>G	ENSP00000464755.1:p.Leu16Val
ENST00000591051.1:c.2715T>G
ENST00000591107.6:c.314T>G
XM_005258277.1:c.3688T>G	XP_005258334.1:p.Leu1230Val
XM_005258278.3:c.3688T>G	XP_005258335.1:p.Leu1230Val
XM_005258278.5:c.3688T>G	XP_005258335.1:p.Leu1230Val
XM_005258279.1:c.3637T>G	XP_005258336.1:p.Leu1213Val
XM_005258279.2:c.3637T>G	XP_005258336.1:p.Leu1213Val
XM_006722479.2:c.3688T>G	XP_006722542.1:p.Leu1230Val
XM_006722479.3:c.3688T>G	XP_006722542.1:p.Leu1230Val
XM_011526015.1:c.3223T>G	XP_011524317.1:p.Leu1075Val
XM_017025784.1:c.3688T>G	XP_016881273.1:p.Leu1230Val
XM_017025785.1:c.3688T>G	XP_016881274.1:p.Leu1230Val
XM_017025786.1:c.3637T>G	XP_016881275.1:p.Leu1213Val
XM_017025787.1:c.3637T>G	XP_016881276.1:p.Leu1213Val