Canonical Allele Identifier: CA401792201

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1180791
• ClinVar RCV Id: RCV001814520
• dbSNP Id: rs2145366579
• MyVariant Identifiers: chr18:g.21118562G>C (hg19) ; chr18:g.23538598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538598G>C , CM000680.2:g.23538598G>C	GRCh38
NC_000018.9:g.21118562G>C , CM000680.1:g.21118562G>C	GRCh37
NC_000018.8:g.19372560G>C	NCBI36
NG_012795.1:g.53020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2985C>G MANE Select	ENSP00000269228.4:p.Phe995Leu
ENST00000269228.9:c.2985C>G	ENSP00000269228.4:p.Phe995Leu
ENST00000591051.1:c.2063C>G
ENST00000591075.1:n.618C>G
ENST00000591955.1:n.328C>G
NM_000271.4:c.2985C>G	NP_000262.2:p.Phe995Leu
XM_005258277.1:c.3036C>G	XP_005258334.1:p.Phe1012Leu
XM_005258278.3:c.3036C>G	XP_005258335.1:p.Phe1012Leu
XM_005258279.1:c.2985C>G	XP_005258336.1:p.Phe995Leu
XM_006722479.2:c.3036C>G	XP_006722542.1:p.Phe1012Leu
XM_011526015.1:c.2571C>G	XP_011524317.1:p.Phe857Leu
XM_005258278.5:c.3036C>G	XP_005258335.1:p.Phe1012Leu
XM_005258279.2:c.2985C>G	XP_005258336.1:p.Phe995Leu
XM_006722479.3:c.3036C>G	XP_006722542.1:p.Phe1012Leu
XM_017025784.1:c.3036C>G	XP_016881273.1:p.Phe1012Leu
XM_017025785.1:c.3036C>G	XP_016881274.1:p.Phe1012Leu
XM_017025786.1:c.2985C>G	XP_016881275.1:p.Phe995Leu
XM_017025787.1:c.2985C>G	XP_016881276.1:p.Phe995Leu
NM_000271.5:c.2985C>G MANE Select	NP_000262.2:p.Phe995Leu