Canonical Allele Identifier: CA401792207

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21118564A>G (hg19) ; chr18:g.23538600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538600A>G , CM000680.2:g.23538600A>G	GRCh38
NC_000018.9:g.21118564A>G , CM000680.1:g.21118564A>G	GRCh37
NC_000018.8:g.19372562A>G	NCBI36
NG_012795.1:g.53018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2983T>C MANE Select	ENSP00000269228.4:p.Phe995Leu
ENST00000269228.9:c.2983T>C	ENSP00000269228.4:p.Phe995Leu
ENST00000591051.1:c.2061T>C
ENST00000591075.1:n.616T>C
ENST00000591955.1:n.326T>C
NM_000271.4:c.2983T>C	NP_000262.2:p.Phe995Leu
XM_005258277.1:c.3034T>C	XP_005258334.1:p.Phe1012Leu
XM_005258278.3:c.3034T>C	XP_005258335.1:p.Phe1012Leu
XM_005258279.1:c.2983T>C	XP_005258336.1:p.Phe995Leu
XM_006722479.2:c.3034T>C	XP_006722542.1:p.Phe1012Leu
XM_011526015.1:c.2569T>C	XP_011524317.1:p.Phe857Leu
XM_005258278.5:c.3034T>C	XP_005258335.1:p.Phe1012Leu
XM_005258279.2:c.2983T>C	XP_005258336.1:p.Phe995Leu
XM_006722479.3:c.3034T>C	XP_006722542.1:p.Phe1012Leu
XM_017025784.1:c.3034T>C	XP_016881273.1:p.Phe1012Leu
XM_017025785.1:c.3034T>C	XP_016881274.1:p.Phe1012Leu
XM_017025786.1:c.2983T>C	XP_016881275.1:p.Phe995Leu
XM_017025787.1:c.2983T>C	XP_016881276.1:p.Phe995Leu
NM_000271.5:c.2983T>C MANE Select	NP_000262.2:p.Phe995Leu