Canonical Allele Identifier: CA8913740

Gene: NPC1

Linked Data

• ClinVar Variation Id: 558159
• ClinVar RCV Id: RCV000674386 ; RCV001267681 ; RCV001731880
• dbSNP Id: rs749012588
• ExAC: 18:21148797 ACT / A
• gnomAD v2: 18-21148797-ACT-A
• MyVariant Identifiers: chr18:g.21148798_21148799del (hg19) ; chr18:g.23568834_23568835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568836_23568837del , CM000680.2:g.23568836_23568837del	GRCh38
NC_000018.9:g.21148800_21148801del , CM000680.1:g.21148800_21148801del	GRCh37
NC_000018.8:g.19402798_19402799del	NCBI36
NG_012795.1:g.22783_22784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.451_452del MANE Select	ENSP00000269228.4:p.Ser151PhefsTer18
ENST00000269228.9:c.451_452del	ENSP00000269228.4:p.Ser151PhefsTer18
ENST00000540608.5:n.365_366del
NM_000271.4:c.451_452del	NP_000262.2:p.Ser151PhefsTer18
XM_005258277.1:c.451_452del	XP_005258334.1:p.Ser151PhefsTer18
XM_005258278.3:c.451_452del	XP_005258335.1:p.Ser151PhefsTer18
XM_005258279.1:c.451_452del	XP_005258336.1:p.Ser151PhefsTer18
XM_006722479.2:c.451_452del	XP_006722542.1:p.Ser151PhefsTer18
XM_011526015.1:c.-15_-14del	XP_011524317.1:n.-15_-14del
XM_005258278.5:c.451_452del	XP_005258335.1:p.Ser151PhefsTer18
XM_005258279.2:c.451_452del	XP_005258336.1:p.Ser151PhefsTer18
XM_006722479.3:c.451_452del	XP_006722542.1:p.Ser151PhefsTer18
XM_017025784.1:c.451_452del	XP_016881273.1:p.Ser151PhefsTer18
XM_017025785.1:c.451_452del	XP_016881274.1:p.Ser151PhefsTer18
XM_017025786.1:c.451_452del	XP_016881275.1:p.Ser151PhefsTer18
XM_017025787.1:c.451_452del	XP_016881276.1:p.Ser151PhefsTer18
NM_000271.5:c.451_452del MANE Select	NP_000262.2:p.Ser151PhefsTer18