Canonical Allele Identifier: CA145951
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92701
dbSNP Id: rs1788799

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23544981C>G , CM000680.2:g.23544981C>G GRCh38
NC_000018.9:g.21124945C>G , CM000680.1:g.21124945C>G GRCh37
NC_000018.8:g.19378943C>G NCBI36
NG_012795.1:g.46637G>C

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.1926G>C VV NP_000262.2:p.Met642Ile
XM_005258277.1:c.1977G>C XP_005258334.1:p.Met659Ile
XM_005258278.3:c.1977G>C XP_005258335.1:p.Met659Ile
XM_005258279.1:c.1926G>C XP_005258336.1:p.Met642Ile
XM_006722479.2:c.1977G>C XP_006722542.1:p.Met659Ile
XM_011526015.1:c.1512G>C XP_011524317.1:p.Met504Ile
XM_005258278.5:c.1977G>C
XM_005258279.2:c.1926G>C
XM_006722479.3:c.1977G>C
XM_017025784.1:c.1977G>C XP_016881273.1:p.Met659Ile
XM_017025785.1:c.1977G>C XP_016881274.1:p.Met659Ile
XM_017025786.1:c.1926G>C XP_016881275.1:p.Met642Ile
XM_017025787.1:c.1926G>C XP_016881276.1:p.Met642Ile
NM_000271.5:c.1926G>C VV MANE Preferred
ENST00000269228.9:c.1926G>C ENSP00000269228.4:p.Met642Ile
ENST00000540608.5:n.1840G>C
ENST00000591051.1:n.1004G>C