Canonical Allele Identifier: CA8912977

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1162018
• ClinVar RCV Id: RCV001506782
• dbSNP Id: rs762053127
• ExAC: 18:21119780 G / A
• gnomAD v2: 18-21119780-G-A
• gnomAD v3: 18-23539816-G-A
• gnomAD v4: 18-23539816-G-A
• MyVariant Identifiers: chr18:g.21119780G>A (hg19) ; chr18:g.23539816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539816G>A , CM000680.2:g.23539816G>A	GRCh38
NC_000018.9:g.21119780G>A , CM000680.1:g.21119780G>A	GRCh37
NC_000018.8:g.19373778G>A	NCBI36
NG_012795.1:g.51802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2790C>T MANE Select	ENSP00000269228.4:p.Asp930=
ENST00000269228.9:c.2790C>T	ENSP00000269228.4:p.Asp930=
ENST00000540608.5:n.2704C>T
ENST00000591051.1:c.1868C>T
ENST00000591075.1:n.83C>T
NM_000271.4:c.2790C>T	NP_000262.2:p.Asp930=
XM_005258277.1:c.2841C>T	XP_005258334.1:p.Asp947=
XM_005258278.3:c.2841C>T	XP_005258335.1:p.Asp947=
XM_005258279.1:c.2790C>T	XP_005258336.1:p.Asp930=
XM_006722479.2:c.2841C>T	XP_006722542.1:p.Asp947=
XM_011526015.1:c.2376C>T	XP_011524317.1:p.Asp792=
XM_005258278.5:c.2841C>T	XP_005258335.1:p.Asp947=
XM_005258279.2:c.2790C>T	XP_005258336.1:p.Asp930=
XM_006722479.3:c.2841C>T	XP_006722542.1:p.Asp947=
XM_017025784.1:c.2841C>T	XP_016881273.1:p.Asp947=
XM_017025785.1:c.2841C>T	XP_016881274.1:p.Asp947=
XM_017025786.1:c.2790C>T	XP_016881275.1:p.Asp930=
XM_017025787.1:c.2790C>T	XP_016881276.1:p.Asp930=
NM_000271.5:c.2790C>T MANE Select	NP_000262.2:p.Asp930=