Canonical Allele Identifier: CA503322461

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1143158
• ClinVar RCV Id: RCV001481194
• dbSNP Id: rs182413311
• gnomAD v3: 18-23538571-C-G
• gnomAD v4: 18-23538571-C-G
• MyVariant Identifiers: chr18:g.21118535C>G (hg19) ; chr18:g.23538571C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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