Canonical Allele Identifier: CA401793208

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21120477A>T (hg19) ; chr18:g.23540513A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540513A>T , CM000680.2:g.23540513A>T	GRCh38
NC_000018.9:g.21120477A>T , CM000680.1:g.21120477A>T	GRCh37
NC_000018.8:g.19374475A>T	NCBI36
NG_012795.1:g.51105T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2539T>A MANE Select	ENSP00000269228.4:p.Ser847Thr
ENST00000269228.9:c.2539T>A	ENSP00000269228.4:p.Ser847Thr
ENST00000540608.5:n.2453T>A
ENST00000586718.1:n.330T>A
ENST00000591051.1:c.1617T>A
NM_000271.4:c.2539T>A	NP_000262.2:p.Ser847Thr
XM_005258277.1:c.2590T>A	XP_005258334.1:p.Ser864Thr
XM_005258278.3:c.2590T>A	XP_005258335.1:p.Ser864Thr
XM_005258279.1:c.2539T>A	XP_005258336.1:p.Ser847Thr
XM_006722479.2:c.2590T>A	XP_006722542.1:p.Ser864Thr
XM_011526015.1:c.2125T>A	XP_011524317.1:p.Ser709Thr
XM_005258278.5:c.2590T>A	XP_005258335.1:p.Ser864Thr
XM_005258279.2:c.2539T>A	XP_005258336.1:p.Ser847Thr
XM_006722479.3:c.2590T>A	XP_006722542.1:p.Ser864Thr
XM_017025784.1:c.2590T>A	XP_016881273.1:p.Ser864Thr
XM_017025785.1:c.2590T>A	XP_016881274.1:p.Ser864Thr
XM_017025786.1:c.2539T>A	XP_016881275.1:p.Ser847Thr
XM_017025787.1:c.2539T>A	XP_016881276.1:p.Ser847Thr
NM_000271.5:c.2539T>A MANE Select	NP_000262.2:p.Ser847Thr