Canonical Allele Identifier: CA401785525

Gene: NPC1

Linked Data

• ClinVar Variation Id: 581349
• ClinVar RCV Id: RCV000705147
• dbSNP Id: rs1567977251
• gnomAD v4: 18-23568936-T-C
• MyVariant Identifiers: chr18:g.21148900T>C (hg19) ; chr18:g.23568936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568936T>C , CM000680.2:g.23568936T>C	GRCh38
NC_000018.9:g.21148900T>C , CM000680.1:g.21148900T>C	GRCh37
NC_000018.8:g.19402898T>C	NCBI36
NG_012795.1:g.22682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.350A>G MANE Select	ENSP00000269228.4:p.Gln117Arg
ENST00000269228.9:c.350A>G	ENSP00000269228.4:p.Gln117Arg
ENST00000540608.5:n.264A>G
NM_000271.4:c.350A>G	NP_000262.2:p.Gln117Arg
XM_005258277.1:c.350A>G	XP_005258334.1:p.Gln117Arg
XM_005258278.3:c.350A>G	XP_005258335.1:p.Gln117Arg
XM_005258279.1:c.350A>G	XP_005258336.1:p.Gln117Arg
XM_006722479.2:c.350A>G	XP_006722542.1:p.Gln117Arg
XM_011526015.1:c.-116A>G	XP_011524317.1:n.-116A>G
XM_005258278.5:c.350A>G	XP_005258335.1:p.Gln117Arg
XM_005258279.2:c.350A>G	XP_005258336.1:p.Gln117Arg
XM_006722479.3:c.350A>G	XP_006722542.1:p.Gln117Arg
XM_017025784.1:c.350A>G	XP_016881273.1:p.Gln117Arg
XM_017025785.1:c.350A>G	XP_016881274.1:p.Gln117Arg
XM_017025786.1:c.350A>G	XP_016881275.1:p.Gln117Arg
XM_017025787.1:c.350A>G	XP_016881276.1:p.Gln117Arg
NM_000271.5:c.350A>G MANE Select	NP_000262.2:p.Gln117Arg