Canonical Allele Identifier: CA2573155240

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1487868
• ClinVar RCV Id: RCV002008896
• dbSNP Id: rs2145526225

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568818_23568819dup , CM000680.2:g.23568818_23568819dup	GRCh38
NC_000018.9:g.21148782_21148783dup , CM000680.1:g.21148782_21148783dup	GRCh37
NC_000018.8:g.19402780_19402781dup	NCBI36
NG_012795.1:g.22799_22800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.463+4_463+5dup MANE Select	ENSP00000269228.4:n.463+4_463+5dup
ENST00000269228.9:c.463+4_463+5dup	ENSP00000269228.4:n.463+4_463+5dup
ENST00000540608.5:n.377+4_377+5dup
NM_000271.4:c.463+4_463+5dup	NP_000262.2:n.463+4_463+5dup
XM_005258277.1:c.463+4_463+5dup	XP_005258334.1:n.463+4_463+5dup
XM_005258278.3:c.463+4_463+5dup	XP_005258335.1:n.463+4_463+5dup
XM_005258279.1:c.463+4_463+5dup	XP_005258336.1:n.463+4_463+5dup
XM_006722479.2:c.463+4_463+5dup	XP_006722542.1:n.463+4_463+5dup
XM_011526015.1:c.-3+4_-3+5dup	XP_011524317.1:n.-3+4_-3+5dup
XM_005258278.5:c.463+4_463+5dup	XP_005258335.1:n.463+4_463+5dup
XM_005258279.2:c.463+4_463+5dup	XP_005258336.1:n.463+4_463+5dup
XM_006722479.3:c.463+4_463+5dup	XP_006722542.1:n.463+4_463+5dup
XM_017025784.1:c.463+4_463+5dup	XP_016881273.1:n.463+4_463+5dup
XM_017025785.1:c.463+4_463+5dup	XP_016881274.1:n.463+4_463+5dup
XM_017025786.1:c.463+4_463+5dup	XP_016881275.1:n.463+4_463+5dup
XM_017025787.1:c.463+4_463+5dup	XP_016881276.1:n.463+4_463+5dup
NM_000271.5:c.463+4_463+5dup MANE Select	NP_000262.2:n.463+4_463+5dup