Canonical Allele Identifier: CA2965500221

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534531dup , CM000680.2:g.23534531dup	GRCh38
NC_000018.9:g.21114495dup , CM000680.1:g.21114495dup	GRCh37
NC_000018.8:g.19368493dup	NCBI36
NG_012795.1:g.57087dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3506dup MANE Select	NP_000262.2:p.Ser1169ArgfsTer?
ENST00000269228.10:c.3506dup MANE Select	ENSP00000269228.4:p.Ser1169ArgfsTer?
NM_000271.4:c.3506dup	NP_000262.2:p.Ser1169ArgfsTer?
ENST00000269228.9:c.3506dup	ENSP00000269228.4:p.Ser1169ArgfsTer?
ENST00000586150.5:c.261dup
ENST00000587163.1:n.30dup
ENST00000588867.1:n.261dup
ENST00000591051.1:c.2584dup
ENST00000591107.6:c.183dup
XM_005258277.1:c.3557dup	XP_005258334.1:p.Ser1186ArgfsTer?
XM_005258278.3:c.3557dup	XP_005258335.1:p.Ser1186ArgfsTer?
XM_005258278.5:c.3557dup	XP_005258335.1:p.Ser1186ArgfsTer?
XM_005258279.1:c.3506dup	XP_005258336.1:p.Ser1169ArgfsTer?
XM_005258279.2:c.3506dup	XP_005258336.1:p.Ser1169ArgfsTer?
XM_006722479.2:c.3557dup	XP_006722542.1:p.Ser1186ArgfsTer?
XM_006722479.3:c.3557dup	XP_006722542.1:p.Ser1186ArgfsTer?
XM_011526015.1:c.3092dup	XP_011524317.1:p.Ser1031ArgfsTer?
XM_017025784.1:c.3557dup	XP_016881273.1:p.Ser1186ArgfsTer?
XM_017025785.1:c.3557dup	XP_016881274.1:p.Ser1186ArgfsTer?
XM_017025786.1:c.3506dup	XP_016881275.1:p.Ser1169ArgfsTer?
XM_017025787.1:c.3506dup	XP_016881276.1:p.Ser1169ArgfsTer?