Canonical Allele Identifier: CA8912896

Gene: NPC1

Linked Data

• ClinVar Variation Id: 326252
• ClinVar RCV Id: RCV000729382 ; RCV001087791
• dbSNP Id: rs182413311
• ExAC: 18:21118535 C / T
• gnomAD v2: 18-21118535-C-T
• gnomAD v3: 18-23538571-C-T
• gnomAD v4: 18-23538571-C-T
• MyVariant Identifiers: chr18:g.21118535C>T (hg19) ; chr18:g.23538571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538571C>T , CM000680.2:g.23538571C>T	GRCh38
NC_000018.9:g.21118535C>T , CM000680.1:g.21118535C>T	GRCh37
NC_000018.8:g.19372533C>T	NCBI36
NG_012795.1:g.53047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3012G>A MANE Select	ENSP00000269228.4:p.Ser1004=
ENST00000269228.9:c.3012G>A	ENSP00000269228.4:p.Ser1004=
ENST00000591051.1:c.2090G>A
ENST00000591075.1:n.645G>A
ENST00000591955.1:n.355G>A
NM_000271.4:c.3012G>A	NP_000262.2:p.Ser1004=
XM_005258277.1:c.3063G>A	XP_005258334.1:p.Ser1021=
XM_005258278.3:c.3063G>A	XP_005258335.1:p.Ser1021=
XM_005258279.1:c.3012G>A	XP_005258336.1:p.Ser1004=
XM_006722479.2:c.3063G>A	XP_006722542.1:p.Ser1021=
XM_011526015.1:c.2598G>A	XP_011524317.1:p.Ser866=
XM_005258278.5:c.3063G>A	XP_005258335.1:p.Ser1021=
XM_005258279.2:c.3012G>A	XP_005258336.1:p.Ser1004=
XM_006722479.3:c.3063G>A	XP_006722542.1:p.Ser1021=
XM_017025784.1:c.3063G>A	XP_016881273.1:p.Ser1021=
XM_017025785.1:c.3063G>A	XP_016881274.1:p.Ser1021=
XM_017025786.1:c.3012G>A	XP_016881275.1:p.Ser1004=
XM_017025787.1:c.3012G>A	XP_016881276.1:p.Ser1004=
NM_000271.5:c.3012G>A MANE Select	NP_000262.2:p.Ser1004=