Canonical Allele Identifier: CA401785169

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1464171
• ClinVar RCV Id: RCV001961286
• dbSNP Id: rs2145526753
• gnomAD v4: 18-23568889-C-G
• MyVariant Identifiers: chr18:g.21148853C>G (hg19) ; chr18:g.23568889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568889C>G , CM000680.2:g.23568889C>G	GRCh38
NC_000018.9:g.21148853C>G , CM000680.1:g.21148853C>G	GRCh37
NC_000018.8:g.19402851C>G	NCBI36
NG_012795.1:g.22729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.397G>C MANE Select	ENSP00000269228.4:p.Val133Leu
ENST00000269228.9:c.397G>C	ENSP00000269228.4:p.Val133Leu
ENST00000540608.5:n.311G>C
NM_000271.4:c.397G>C	NP_000262.2:p.Val133Leu
XM_005258277.1:c.397G>C	XP_005258334.1:p.Val133Leu
XM_005258278.3:c.397G>C	XP_005258335.1:p.Val133Leu
XM_005258279.1:c.397G>C	XP_005258336.1:p.Val133Leu
XM_006722479.2:c.397G>C	XP_006722542.1:p.Val133Leu
XM_011526015.1:c.-69G>C	XP_011524317.1:n.-69G>C
XM_005258278.5:c.397G>C	XP_005258335.1:p.Val133Leu
XM_005258279.2:c.397G>C	XP_005258336.1:p.Val133Leu
XM_006722479.3:c.397G>C	XP_006722542.1:p.Val133Leu
XM_017025784.1:c.397G>C	XP_016881273.1:p.Val133Leu
XM_017025785.1:c.397G>C	XP_016881274.1:p.Val133Leu
XM_017025786.1:c.397G>C	XP_016881275.1:p.Val133Leu
XM_017025787.1:c.397G>C	XP_016881276.1:p.Val133Leu
NM_000271.5:c.397G>C MANE Select	NP_000262.2:p.Val133Leu