Canonical Allele Identifier: CA8912855

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2072515
• ClinVar RCV Id: RCV002967159
• dbSNP Id: rs765858575
• ExAC: 18:21116768 G / A
• gnomAD v2: 18-21116768-G-A
• gnomAD v4: 18-23536804-G-A
• MyVariant Identifiers: chr18:g.21116768G>A (hg19) ; chr18:g.23536804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23536804G>A , CM000680.2:g.23536804G>A	GRCh38
NC_000018.9:g.21116768G>A , CM000680.1:g.21116768G>A	GRCh37
NC_000018.8:g.19370766G>A	NCBI36
NG_012795.1:g.54814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3114C>T MANE Select	ENSP00000269228.4:p.Phe1038=
ENST00000269228.9:c.3114C>T	ENSP00000269228.4:p.Phe1038=
ENST00000591051.1:c.2192C>T
ENST00000591075.1:n.747C>T
ENST00000591955.1:n.457C>T
NM_000271.4:c.3114C>T	NP_000262.2:p.Phe1038=
XM_005258277.1:c.3165C>T	XP_005258334.1:p.Phe1055=
XM_005258278.3:c.3165C>T	XP_005258335.1:p.Phe1055=
XM_005258279.1:c.3114C>T	XP_005258336.1:p.Phe1038=
XM_006722479.2:c.3165C>T	XP_006722542.1:p.Phe1055=
XM_011526015.1:c.2700C>T	XP_011524317.1:p.Phe900=
XM_005258278.5:c.3165C>T	XP_005258335.1:p.Phe1055=
XM_005258279.2:c.3114C>T	XP_005258336.1:p.Phe1038=
XM_006722479.3:c.3165C>T	XP_006722542.1:p.Phe1055=
XM_017025784.1:c.3165C>T	XP_016881273.1:p.Phe1055=
XM_017025785.1:c.3165C>T	XP_016881274.1:p.Phe1055=
XM_017025786.1:c.3114C>T	XP_016881275.1:p.Phe1038=
XM_017025787.1:c.3114C>T	XP_016881276.1:p.Phe1038=
NM_000271.5:c.3114C>T MANE Select	NP_000262.2:p.Phe1038=