Canonical Allele Identifier: CA8913751

Gene: NPC1

Linked Data

• dbSNP Id: rs768728943
• ExAC: 18:21148862 C / T
• gnomAD v2: 18-21148862-C-T
• gnomAD v3: 18-23568898-C-T
• gnomAD v4: 18-23568898-C-T
• MyVariant Identifiers: chr18:g.21148862C>T (hg19) ; chr18:g.23568898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568898C>T , CM000680.2:g.23568898C>T	GRCh38
NC_000018.9:g.21148862C>T , CM000680.1:g.21148862C>T	GRCh37
NC_000018.8:g.19402860C>T	NCBI36
NG_012795.1:g.22720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.388G>A MANE Select	ENSP00000269228.4:p.Val130Ile
ENST00000269228.9:c.388G>A	ENSP00000269228.4:p.Val130Ile
ENST00000540608.5:n.302G>A
NM_000271.4:c.388G>A	NP_000262.2:p.Val130Ile
XM_005258277.1:c.388G>A	XP_005258334.1:p.Val130Ile
XM_005258278.3:c.388G>A	XP_005258335.1:p.Val130Ile
XM_005258279.1:c.388G>A	XP_005258336.1:p.Val130Ile
XM_006722479.2:c.388G>A	XP_006722542.1:p.Val130Ile
XM_011526015.1:c.-78G>A	XP_011524317.1:n.-78G>A
XM_005258278.5:c.388G>A	XP_005258335.1:p.Val130Ile
XM_005258279.2:c.388G>A	XP_005258336.1:p.Val130Ile
XM_006722479.3:c.388G>A	XP_006722542.1:p.Val130Ile
XM_017025784.1:c.388G>A	XP_016881273.1:p.Val130Ile
XM_017025785.1:c.388G>A	XP_016881274.1:p.Val130Ile
XM_017025786.1:c.388G>A	XP_016881275.1:p.Val130Ile
XM_017025787.1:c.388G>A	XP_016881276.1:p.Val130Ile
NM_000271.5:c.388G>A MANE Select	NP_000262.2:p.Val130Ile