Canonical Allele Identifier: CA269833

Gene: NPC1

Linked Data

• ClinVar Variation Id: 132899
• ClinVar RCV Id: RCV000119336
• dbSNP Id: rs483352884
• MyVariant Identifiers: chr18:g.21119775dupT (hg19) ; chr18:g.21119774_21119775insT (hg19) ; chr18:g.23539811dupT (hg38) ; chr18:g.23539810_23539811insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539811dup , CM000680.2:g.23539811dup	GRCh38
NC_000018.9:g.21119775dup , CM000680.1:g.21119775dup	GRCh37
NC_000018.8:g.19373773dup	NCBI36
NG_012795.1:g.51807dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2795dup MANE Select	ENSP00000269228.4:p.Tyr932Ter
ENST00000269228.9:c.2795dup	ENSP00000269228.4:p.Tyr932Ter
ENST00000540608.5:n.2709dup
ENST00000591051.1:c.1873dup
ENST00000591075.1:n.88dup
NM_000271.4:c.2795dup	NP_000262.2:p.Tyr932Ter
XM_005258277.1:c.2846dup	XP_005258334.1:p.Tyr949Ter
XM_005258278.3:c.2846dup	XP_005258335.1:p.Tyr949Ter
XM_005258279.1:c.2795dup	XP_005258336.1:p.Tyr932Ter
XM_006722479.2:c.2846dup	XP_006722542.1:p.Tyr949Ter
XM_011526015.1:c.2381dup	XP_011524317.1:p.Tyr794Ter
XM_005258278.5:c.2846dup	XP_005258335.1:p.Tyr949Ter
XM_005258279.2:c.2795dup	XP_005258336.1:p.Tyr932Ter
XM_006722479.3:c.2846dup	XP_006722542.1:p.Tyr949Ter
XM_017025784.1:c.2846dup	XP_016881273.1:p.Tyr949Ter
XM_017025785.1:c.2846dup	XP_016881274.1:p.Tyr949Ter
XM_017025786.1:c.2795dup	XP_016881275.1:p.Tyr932Ter
XM_017025787.1:c.2795dup	XP_016881276.1:p.Tyr932Ter
NM_000271.5:c.2795dup MANE Select	NP_000262.2:p.Tyr932Ter