Canonical Allele Identifier: CA2290186921

Gene: NPC1

Linked Data

• dbSNP Id: rs2059359811

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23581875dup , CM000680.2:g.23581875dup	GRCh38
NC_000018.9:g.21161839dup , CM000680.1:g.21161839dup	GRCh37
NC_000018.8:g.19415837dup	NCBI36
NG_012795.1:g.9743dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.57+4412dup MANE Select	ENSP00000269228.4:n.57+4412dup
ENST00000269228.9:c.57+4412dup	ENSP00000269228.4:n.57+4412dup
ENST00000540608.5:n.201+4412dup
NM_000271.4:c.57+4412dup	NP_000262.2:n.57+4412dup
XM_005258277.1:c.57+4412dup	XP_005258334.1:n.57+4412dup
XM_005258278.3:c.57+4412dup	XP_005258335.1:n.57+4412dup
XM_005258279.1:c.57+4412dup	XP_005258336.1:n.57+4412dup
XM_006722479.2:c.57+4412dup	XP_006722542.1:n.57+4412dup
XM_005258278.5:c.57+4412dup	XP_005258335.1:n.57+4412dup
XM_005258279.2:c.57+4412dup	XP_005258336.1:n.57+4412dup
XM_006722479.3:c.57+4412dup	XP_006722542.1:n.57+4412dup
XM_017025784.1:c.57+4412dup	XP_016881273.1:n.57+4412dup
XM_017025785.1:c.57+4412dup	XP_016881274.1:n.57+4412dup
XM_017025786.1:c.57+4412dup	XP_016881275.1:n.57+4412dup
XM_017025787.1:c.57+4412dup	XP_016881276.1:n.57+4412dup
NM_000271.5:c.57+4412dup MANE Select	NP_000262.2:n.57+4412dup