Canonical Allele Identifier: CA8913550

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1501603
• ClinVar RCV Id: RCV002017593
• dbSNP Id: rs370181667
• ExAC: 18:21136511 C / G
• gnomAD v2: 18-21136511-C-G
• gnomAD v4: 18-23556547-C-G
• MyVariant Identifiers: chr18:g.21136511C>G (hg19) ; chr18:g.23556547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556547C>G , CM000680.2:g.23556547C>G	GRCh38
NC_000018.9:g.21136511C>G , CM000680.1:g.21136511C>G	GRCh37
NC_000018.8:g.19390509C>G	NCBI36
NG_012795.1:g.35071G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1022G>C MANE Select	ENSP00000269228.4:p.Arg341Pro
ENST00000269228.9:c.1022G>C	ENSP00000269228.4:p.Arg341Pro
ENST00000540608.5:n.936G>C
ENST00000591051.1:c.304G>C
NM_000271.4:c.1022G>C	NP_000262.2:p.Arg341Pro
XM_005258277.1:c.1073G>C	XP_005258334.1:p.Arg358Pro
XM_005258278.3:c.1073G>C	XP_005258335.1:p.Arg358Pro
XM_005258279.1:c.1022G>C	XP_005258336.1:p.Arg341Pro
XM_006722479.2:c.1073G>C	XP_006722542.1:p.Arg358Pro
XM_011526015.1:c.608G>C	XP_011524317.1:p.Arg203Pro
XM_005258278.5:c.1073G>C	XP_005258335.1:p.Arg358Pro
XM_005258279.2:c.1022G>C	XP_005258336.1:p.Arg341Pro
XM_006722479.3:c.1073G>C	XP_006722542.1:p.Arg358Pro
XM_017025784.1:c.1073G>C	XP_016881273.1:p.Arg358Pro
XM_017025785.1:c.1073G>C	XP_016881274.1:p.Arg358Pro
XM_017025786.1:c.1022G>C	XP_016881275.1:p.Arg341Pro
XM_017025787.1:c.1022G>C	XP_016881276.1:p.Arg341Pro
NM_000271.5:c.1022G>C MANE Select	NP_000262.2:p.Arg341Pro