Canonical Allele Identifier: CA401785360

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2546667
• ClinVar RCV Id: RCV003292689
• MyVariant Identifiers: chr18:g.21148880T>A (hg19) ; chr18:g.23568916T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568916T>A , CM000680.2:g.23568916T>A	GRCh38
NC_000018.9:g.21148880T>A , CM000680.1:g.21148880T>A	GRCh37
NC_000018.8:g.19402878T>A	NCBI36
NG_012795.1:g.22702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.370A>T MANE Select	ENSP00000269228.4:p.Thr124Ser
ENST00000269228.9:c.370A>T	ENSP00000269228.4:p.Thr124Ser
ENST00000540608.5:n.284A>T
NM_000271.4:c.370A>T	NP_000262.2:p.Thr124Ser
XM_005258277.1:c.370A>T	XP_005258334.1:p.Thr124Ser
XM_005258278.3:c.370A>T	XP_005258335.1:p.Thr124Ser
XM_005258279.1:c.370A>T	XP_005258336.1:p.Thr124Ser
XM_006722479.2:c.370A>T	XP_006722542.1:p.Thr124Ser
XM_011526015.1:c.-96A>T	XP_011524317.1:n.-96A>T
XM_005258278.5:c.370A>T	XP_005258335.1:p.Thr124Ser
XM_005258279.2:c.370A>T	XP_005258336.1:p.Thr124Ser
XM_006722479.3:c.370A>T	XP_006722542.1:p.Thr124Ser
XM_017025784.1:c.370A>T	XP_016881273.1:p.Thr124Ser
XM_017025785.1:c.370A>T	XP_016881274.1:p.Thr124Ser
XM_017025786.1:c.370A>T	XP_016881275.1:p.Thr124Ser
XM_017025787.1:c.370A>T	XP_016881276.1:p.Thr124Ser
NM_000271.5:c.370A>T MANE Select	NP_000262.2:p.Thr124Ser