Canonical Allele Identifier: CA503325130

Gene: NPC1

Linked Data

• dbSNP Id: rs2058951151
• MyVariant Identifiers: chr18:g.21136348A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556384A>G , CM000680.2:g.23556384A>G	GRCh38
NC_000018.9:g.21136348A>G , CM000680.1:g.21136348A>G	GRCh37
NC_000018.8:g.19390346A>G	NCBI36
NG_012795.1:g.35234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1185T>C MANE Select	ENSP00000269228.4:p.Phe395=
ENST00000269228.9:c.1185T>C	ENSP00000269228.4:p.Phe395=
ENST00000540608.5:n.1099T>C
ENST00000591051.1:c.467T>C
NM_000271.4:c.1185T>C	NP_000262.2:p.Phe395=
XM_005258277.1:c.1236T>C	XP_005258334.1:p.Phe412=
XM_005258278.3:c.1236T>C	XP_005258335.1:p.Phe412=
XM_005258279.1:c.1185T>C	XP_005258336.1:p.Phe395=
XM_006722479.2:c.1236T>C	XP_006722542.1:p.Phe412=
XM_011526015.1:c.771T>C	XP_011524317.1:p.Phe257=
XM_005258278.5:c.1236T>C	XP_005258335.1:p.Phe412=
XM_005258279.2:c.1185T>C	XP_005258336.1:p.Phe395=
XM_006722479.3:c.1236T>C	XP_006722542.1:p.Phe412=
XM_017025784.1:c.1236T>C	XP_016881273.1:p.Phe412=
XM_017025785.1:c.1236T>C	XP_016881274.1:p.Phe412=
XM_017025786.1:c.1185T>C	XP_016881275.1:p.Phe395=
XM_017025787.1:c.1185T>C	XP_016881276.1:p.Phe395=
NM_000271.5:c.1185T>C MANE Select	NP_000262.2:p.Phe395=