Canonical Allele Identifier: CA503322806

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21120475T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23540511T>G , CM000680.2:g.23540511T>G	GRCh38
NC_000018.9:g.21120475T>G , CM000680.1:g.21120475T>G	GRCh37
NC_000018.8:g.19374473T>G	NCBI36
NG_012795.1:g.51107A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2541A>C MANE Select	ENSP00000269228.4:p.Ser847=
ENST00000269228.9:c.2541A>C	ENSP00000269228.4:p.Ser847=
ENST00000540608.5:n.2455A>C
ENST00000586718.1:n.332A>C
ENST00000591051.1:c.1619A>C
NM_000271.4:c.2541A>C	NP_000262.2:p.Ser847=
XM_005258277.1:c.2592A>C	XP_005258334.1:p.Ser864=
XM_005258278.3:c.2592A>C	XP_005258335.1:p.Ser864=
XM_005258279.1:c.2541A>C	XP_005258336.1:p.Ser847=
XM_006722479.2:c.2592A>C	XP_006722542.1:p.Ser864=
XM_011526015.1:c.2127A>C	XP_011524317.1:p.Ser709=
XM_005258278.5:c.2592A>C	XP_005258335.1:p.Ser864=
XM_005258279.2:c.2541A>C	XP_005258336.1:p.Ser847=
XM_006722479.3:c.2592A>C	XP_006722542.1:p.Ser864=
XM_017025784.1:c.2592A>C	XP_016881273.1:p.Ser864=
XM_017025785.1:c.2592A>C	XP_016881274.1:p.Ser864=
XM_017025786.1:c.2541A>C	XP_016881275.1:p.Ser847=
XM_017025787.1:c.2541A>C	XP_016881276.1:p.Ser847=
NM_000271.5:c.2541A>C MANE Select	NP_000262.2:p.Ser847=