Canonical Allele Identifier: CA401778794

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1507768
• ClinVar RCV Id: RCV002048164
• dbSNP Id: rs1444308532
• gnomAD v3: 18-23556541-C-G
• gnomAD v4: 18-23556541-C-G
• MyVariant Identifiers: chr18:g.21136505C>G (hg19) ; chr18:g.23556541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556541C>G , CM000680.2:g.23556541C>G	GRCh38
NC_000018.9:g.21136505C>G , CM000680.1:g.21136505C>G	GRCh37
NC_000018.8:g.19390503C>G	NCBI36
NG_012795.1:g.35077G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1028G>C MANE Select	ENSP00000269228.4:p.Gly343Ala
ENST00000269228.9:c.1028G>C	ENSP00000269228.4:p.Gly343Ala
ENST00000540608.5:n.942G>C
ENST00000591051.1:c.310G>C
NM_000271.4:c.1028G>C	NP_000262.2:p.Gly343Ala
XM_005258277.1:c.1079G>C	XP_005258334.1:p.Gly360Ala
XM_005258278.3:c.1079G>C	XP_005258335.1:p.Gly360Ala
XM_005258279.1:c.1028G>C	XP_005258336.1:p.Gly343Ala
XM_006722479.2:c.1079G>C	XP_006722542.1:p.Gly360Ala
XM_011526015.1:c.614G>C	XP_011524317.1:p.Gly205Ala
XM_005258278.5:c.1079G>C	XP_005258335.1:p.Gly360Ala
XM_005258279.2:c.1028G>C	XP_005258336.1:p.Gly343Ala
XM_006722479.3:c.1079G>C	XP_006722542.1:p.Gly360Ala
XM_017025784.1:c.1079G>C	XP_016881273.1:p.Gly360Ala
XM_017025785.1:c.1079G>C	XP_016881274.1:p.Gly360Ala
XM_017025786.1:c.1028G>C	XP_016881275.1:p.Gly343Ala
XM_017025787.1:c.1028G>C	XP_016881276.1:p.Gly343Ala
NM_000271.5:c.1028G>C MANE Select	NP_000262.2:p.Gly343Ala