Canonical Allele Identifier: CA8913447

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554759G>A , CM000680.2:g.23554759G>A	GRCh38
NC_000018.9:g.21134723G>A , CM000680.1:g.21134723G>A	GRCh37
NC_000018.8:g.19388721G>A	NCBI36
NG_012795.1:g.36859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.1552C>T MANE Select	NP_000262.2:p.Arg518Trp
ENST00000269228.10:c.1552C>T MANE Select	ENSP00000269228.4:p.Arg518Trp
NM_000271.4:c.1552C>T	NP_000262.2:p.Arg518Trp
ENST00000269228.9:c.1552C>T	ENSP00000269228.4:p.Arg518Trp
ENST00000540608.5:n.1466C>T
ENST00000590301.1:n.227C>T
ENST00000591051.1:c.834C>T
XM_005258277.1:c.1603C>T	XP_005258334.1:p.Arg535Trp
XM_005258278.3:c.1603C>T	XP_005258335.1:p.Arg535Trp
XM_005258278.5:c.1603C>T	XP_005258335.1:p.Arg535Trp
XM_005258279.1:c.1552C>T	XP_005258336.1:p.Arg518Trp
XM_005258279.2:c.1552C>T	XP_005258336.1:p.Arg518Trp
XM_006722479.2:c.1603C>T	XP_006722542.1:p.Arg535Trp
XM_006722479.3:c.1603C>T	XP_006722542.1:p.Arg535Trp
XM_011526015.1:c.1138C>T	XP_011524317.1:p.Arg380Trp
XM_017025784.1:c.1603C>T	XP_016881273.1:p.Arg535Trp
XM_017025785.1:c.1603C>T	XP_016881274.1:p.Arg535Trp
XM_017025786.1:c.1552C>T	XP_016881275.1:p.Arg518Trp
XM_017025787.1:c.1552C>T	XP_016881276.1:p.Arg518Trp