Canonical Allele Identifier: CA503521813

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1083363
• ClinVar RCV Id: RCV001399997
• dbSNP Id: rs2145351993
• MyVariant Identifiers: chr18:g.21115658A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535694A>G , CM000680.2:g.23535694A>G	GRCh38
NC_000018.9:g.21115658A>G , CM000680.1:g.21115658A>G	GRCh37
NC_000018.8:g.19369656A>G	NCBI36
NG_012795.1:g.55924T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3252T>C MANE Select	ENSP00000269228.4:p.Phe1084=
ENST00000269228.9:c.3252T>C	ENSP00000269228.4:p.Phe1084=
ENST00000586150.5:c.7T>C
ENST00000588867.1:n.7T>C
ENST00000591051.1:c.2330T>C
NM_000271.4:c.3252T>C	NP_000262.2:p.Phe1084=
XM_005258277.1:c.3303T>C	XP_005258334.1:p.Phe1101=
XM_005258278.3:c.3303T>C	XP_005258335.1:p.Phe1101=
XM_005258279.1:c.3252T>C	XP_005258336.1:p.Phe1084=
XM_006722479.2:c.3303T>C	XP_006722542.1:p.Phe1101=
XM_011526015.1:c.2838T>C	XP_011524317.1:p.Phe946=
XM_005258278.5:c.3303T>C	XP_005258335.1:p.Phe1101=
XM_005258279.2:c.3252T>C	XP_005258336.1:p.Phe1084=
XM_006722479.3:c.3303T>C	XP_006722542.1:p.Phe1101=
XM_017025784.1:c.3303T>C	XP_016881273.1:p.Phe1101=
XM_017025785.1:c.3303T>C	XP_016881274.1:p.Phe1101=
XM_017025786.1:c.3252T>C	XP_016881275.1:p.Phe1084=
XM_017025787.1:c.3252T>C	XP_016881276.1:p.Phe1084=
NM_000271.5:c.3252T>C MANE Select	NP_000262.2:p.Phe1084=