Canonical Allele Identifier: CA2499225057

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535652dup , CM000680.2:g.23535652dup	GRCh38
NC_000018.9:g.21115616dup , CM000680.1:g.21115616dup	GRCh37
NC_000018.8:g.19369614dup	NCBI36
NG_012795.1:g.55966dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3294dup MANE Select	ENSP00000269228.4:p.Ile1099TyrfsTer22
ENST00000269228.9:c.3294dup	ENSP00000269228.4:p.Ile1099TyrfsTer22
ENST00000586150.5:c.49dup
ENST00000588867.1:n.49dup
ENST00000591051.1:c.2372dup
NM_000271.4:c.3294dup	NP_000262.2:p.Ile1099TyrfsTer22
XM_005258277.1:c.3345dup	XP_005258334.1:p.Ile1116TyrfsTer22
XM_005258278.3:c.3345dup	XP_005258335.1:p.Ile1116TyrfsTer22
XM_005258279.1:c.3294dup	XP_005258336.1:p.Ile1099TyrfsTer22
XM_006722479.2:c.3345dup	XP_006722542.1:p.Ile1116TyrfsTer22
XM_011526015.1:c.2880dup	XP_011524317.1:p.Ile961TyrfsTer22
XM_005258278.5:c.3345dup	XP_005258335.1:p.Ile1116TyrfsTer22
XM_005258279.2:c.3294dup	XP_005258336.1:p.Ile1099TyrfsTer22
XM_006722479.3:c.3345dup	XP_006722542.1:p.Ile1116TyrfsTer22
XM_017025784.1:c.3345dup	XP_016881273.1:p.Ile1116TyrfsTer22
XM_017025785.1:c.3345dup	XP_016881274.1:p.Ile1116TyrfsTer22
XM_017025786.1:c.3294dup	XP_016881275.1:p.Ile1099TyrfsTer22
XM_017025787.1:c.3294dup	XP_016881276.1:p.Ile1099TyrfsTer22
NM_000271.5:c.3294dup MANE Select	NP_000262.2:p.Ile1099TyrfsTer22