Canonical Allele Identifier: CA401792896

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1693718
• ClinVar RCV Id: RCV002261587
• dbSNP Id: rs2145373610
• MyVariant Identifiers: chr18:g.21119896C>G (hg19) ; chr18:g.23539932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539932C>G , CM000680.2:g.23539932C>G	GRCh38
NC_000018.9:g.21119896C>G , CM000680.1:g.21119896C>G	GRCh37
NC_000018.8:g.19373894C>G	NCBI36
NG_012795.1:g.51686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2674G>C MANE Select	ENSP00000269228.4:p.Val892Leu
ENST00000269228.9:c.2674G>C	ENSP00000269228.4:p.Val892Leu
ENST00000540608.5:n.2588G>C
ENST00000586718.1:n.465G>C
ENST00000591051.1:c.1752G>C
NM_000271.4:c.2674G>C	NP_000262.2:p.Val892Leu
XM_005258277.1:c.2725G>C	XP_005258334.1:p.Val909Leu
XM_005258278.3:c.2725G>C	XP_005258335.1:p.Val909Leu
XM_005258279.1:c.2674G>C	XP_005258336.1:p.Val892Leu
XM_006722479.2:c.2725G>C	XP_006722542.1:p.Val909Leu
XM_011526015.1:c.2260G>C	XP_011524317.1:p.Val754Leu
XM_005258278.5:c.2725G>C	XP_005258335.1:p.Val909Leu
XM_005258279.2:c.2674G>C	XP_005258336.1:p.Val892Leu
XM_006722479.3:c.2725G>C	XP_006722542.1:p.Val909Leu
XM_017025784.1:c.2725G>C	XP_016881273.1:p.Val909Leu
XM_017025785.1:c.2725G>C	XP_016881274.1:p.Val909Leu
XM_017025786.1:c.2674G>C	XP_016881275.1:p.Val892Leu
XM_017025787.1:c.2674G>C	XP_016881276.1:p.Val892Leu
NM_000271.5:c.2674G>C MANE Select	NP_000262.2:p.Val892Leu