Canonical Allele Identifier: CA8913757

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2191722
• ClinVar RCV Id: RCV002632963
• dbSNP Id: rs765319175
• ExAC: 18:21148914 T / C
• gnomAD v2: 18-21148914-T-C
• gnomAD v3: 18-23568950-T-C
• gnomAD v4: 18-23568950-T-C
• MyVariant Identifiers: chr18:g.21148914T>C (hg19) ; chr18:g.23568950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568950T>C , CM000680.2:g.23568950T>C	GRCh38
NC_000018.9:g.21148914T>C , CM000680.1:g.21148914T>C	GRCh37
NC_000018.8:g.19402912T>C	NCBI36
NG_012795.1:g.22668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.336A>G MANE Select	ENSP00000269228.4:p.Thr112=
ENST00000269228.9:c.336A>G	ENSP00000269228.4:p.Thr112=
ENST00000540608.5:n.250A>G
NM_000271.4:c.336A>G	NP_000262.2:p.Thr112=
XM_005258277.1:c.336A>G	XP_005258334.1:p.Thr112=
XM_005258278.3:c.336A>G	XP_005258335.1:p.Thr112=
XM_005258279.1:c.336A>G	XP_005258336.1:p.Thr112=
XM_006722479.2:c.336A>G	XP_006722542.1:p.Thr112=
XM_011526015.1:c.-130A>G	XP_011524317.1:n.-130A>G
XM_005258278.5:c.336A>G	XP_005258335.1:p.Thr112=
XM_005258279.2:c.336A>G	XP_005258336.1:p.Thr112=
XM_006722479.3:c.336A>G	XP_006722542.1:p.Thr112=
XM_017025784.1:c.336A>G	XP_016881273.1:p.Thr112=
XM_017025785.1:c.336A>G	XP_016881274.1:p.Thr112=
XM_017025786.1:c.336A>G	XP_016881275.1:p.Thr112=
XM_017025787.1:c.336A>G	XP_016881276.1:p.Thr112=
NM_000271.5:c.336A>G MANE Select	NP_000262.2:p.Thr112=