Canonical Allele Identifier: CA16620670

Gene: NPC1

Linked Data

• ClinVar Variation Id: 422340
• ClinVar RCV Id: RCV000478255 ; RCV000694249
• dbSNP Id: rs1064795718
• gnomAD v4: 18-23560391-G-A
• MyVariant Identifiers: chr18:g.21140355G>A (hg19) ; chr18:g.23560391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560391G>A , CM000680.2:g.23560391G>A	GRCh38
NC_000018.9:g.21140355G>A , CM000680.1:g.21140355G>A	GRCh37
NC_000018.8:g.19394353G>A	NCBI36
NG_012795.1:g.31227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.721C>T MANE Select	ENSP00000269228.4:p.Gln241Ter
ENST00000269228.9:c.721C>T	ENSP00000269228.4:p.Gln241Ter
ENST00000540608.5:n.635C>T
NM_000271.4:c.721C>T	NP_000262.2:p.Gln241Ter
XM_005258277.1:c.721C>T	XP_005258334.1:p.Gln241Ter
XM_005258278.3:c.721C>T	XP_005258335.1:p.Gln241Ter
XM_005258279.1:c.721C>T	XP_005258336.1:p.Gln241Ter
XM_006722479.2:c.721C>T	XP_006722542.1:p.Gln241Ter
XM_011526015.1:c.256C>T	XP_011524317.1:p.Gln86Ter
XM_005258278.5:c.721C>T	XP_005258335.1:p.Gln241Ter
XM_005258279.2:c.721C>T	XP_005258336.1:p.Gln241Ter
XM_006722479.3:c.721C>T	XP_006722542.1:p.Gln241Ter
XM_017025784.1:c.721C>T	XP_016881273.1:p.Gln241Ter
XM_017025785.1:c.721C>T	XP_016881274.1:p.Gln241Ter
XM_017025786.1:c.721C>T	XP_016881275.1:p.Gln241Ter
XM_017025787.1:c.721C>T	XP_016881276.1:p.Gln241Ter
NM_000271.5:c.721C>T MANE Select	NP_000262.2:p.Gln241Ter