Canonical Allele Identifier: CA401774819

Gene: NPC1

Linked Data

• dbSNP Id: rs2058874805
• gnomAD v3: 18-23551678-C-A
• gnomAD v4: 18-23551678-C-A
• MyVariant Identifiers: chr18:g.21131642C>A (hg19) ; chr18:g.23551678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551678C>A , CM000680.2:g.23551678C>A	GRCh38
NC_000018.9:g.21131642C>A , CM000680.1:g.21131642C>A	GRCh37
NC_000018.8:g.19385640C>A	NCBI36
NG_012795.1:g.39940G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1603G>T MANE Select	ENSP00000269228.4:p.Gly535Cys
ENST00000269228.9:c.1603G>T	ENSP00000269228.4:p.Gly535Cys
ENST00000540608.5:n.1517G>T
ENST00000590301.1:n.278G>T
ENST00000591051.1:c.835+3080G>T
NM_000271.4:c.1603G>T	NP_000262.2:p.Gly535Cys
XM_005258277.1:c.1654G>T	XP_005258334.1:p.Gly552Cys
XM_005258278.3:c.1654G>T	XP_005258335.1:p.Gly552Cys
XM_005258279.1:c.1603G>T	XP_005258336.1:p.Gly535Cys
XM_006722479.2:c.1654G>T	XP_006722542.1:p.Gly552Cys
XM_011526015.1:c.1189G>T	XP_011524317.1:p.Gly397Cys
XM_005258278.5:c.1654G>T	XP_005258335.1:p.Gly552Cys
XM_005258279.2:c.1603G>T	XP_005258336.1:p.Gly535Cys
XM_006722479.3:c.1654G>T	XP_006722542.1:p.Gly552Cys
XM_017025784.1:c.1654G>T	XP_016881273.1:p.Gly552Cys
XM_017025785.1:c.1654G>T	XP_016881274.1:p.Gly552Cys
XM_017025786.1:c.1603G>T	XP_016881275.1:p.Gly535Cys
XM_017025787.1:c.1603G>T	XP_016881276.1:p.Gly535Cys
NM_000271.5:c.1603G>T MANE Select	NP_000262.2:p.Gly535Cys