Canonical Allele Identifier: CA8913537

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556481G>A , CM000680.2:g.23556481G>A	GRCh38
NC_000018.9:g.21136445G>A , CM000680.1:g.21136445G>A	GRCh37
NC_000018.8:g.19390443G>A	NCBI36
NG_012795.1:g.35137C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.1088C>T MANE Select	NP_000262.2:p.Ala363Val
ENST00000269228.10:c.1088C>T MANE Select	ENSP00000269228.4:p.Ala363Val
NM_000271.4:c.1088C>T	NP_000262.2:p.Ala363Val
ENST00000269228.9:c.1088C>T	ENSP00000269228.4:p.Ala363Val
ENST00000540608.5:n.1002C>T
ENST00000591051.1:c.370C>T
XM_005258277.1:c.1139C>T	XP_005258334.1:p.Ala380Val
XM_005258278.3:c.1139C>T	XP_005258335.1:p.Ala380Val
XM_005258278.5:c.1139C>T	XP_005258335.1:p.Ala380Val
XM_005258279.1:c.1088C>T	XP_005258336.1:p.Ala363Val
XM_005258279.2:c.1088C>T	XP_005258336.1:p.Ala363Val
XM_006722479.2:c.1139C>T	XP_006722542.1:p.Ala380Val
XM_006722479.3:c.1139C>T	XP_006722542.1:p.Ala380Val
XM_011526015.1:c.674C>T	XP_011524317.1:p.Ala225Val
XM_017025784.1:c.1139C>T	XP_016881273.1:p.Ala380Val
XM_017025785.1:c.1139C>T	XP_016881274.1:p.Ala380Val
XM_017025786.1:c.1088C>T	XP_016881275.1:p.Ala363Val
XM_017025787.1:c.1088C>T	XP_016881276.1:p.Ala363Val