Canonical Allele Identifier: CA16041923
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370763
ClinVar RCV Id: RCV000411904
dbSNP Id: rs1057516749

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23568853G>A , CM000680.2:g.23568853G>A GRCh38
NC_000018.9:g.21148817G>A , CM000680.1:g.21148817G>A GRCh37
NC_000018.8:g.19402815G>A NCBI36
NG_012795.1:g.22765C>T

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.433C>T VV NP_000262.2:p.Gln145Ter
XM_005258277.1:c.433C>T XP_005258334.1:p.Gln145Ter
XM_005258278.3:c.433C>T XP_005258335.1:p.Gln145Ter
XM_005258279.1:c.433C>T XP_005258336.1:p.Gln145Ter
XM_006722479.2:c.433C>T XP_006722542.1:p.Gln145Ter
XM_011526015.1:c.-33C>T XP_011524317.1:p.=
XM_005258278.5:c.433C>T XP_005258335.1:p.Gln145Ter
XM_005258279.2:c.433C>T XP_005258336.1:p.Gln145Ter
XM_006722479.3:c.433C>T XP_006722542.1:p.Gln145Ter
XM_017025784.1:c.433C>T XP_016881273.1:p.Gln145Ter
XM_017025785.1:c.433C>T XP_016881274.1:p.Gln145Ter
XM_017025786.1:c.433C>T XP_016881275.1:p.Gln145Ter
XM_017025787.1:c.433C>T XP_016881276.1:p.Gln145Ter
NM_000271.5:c.433C>T VV MANE Preferred NP_000262.2:p.Gln145Ter
ENST00000269228.9:c.433C>T ENSP00000269228.4:p.Gln145Ter
ENST00000540608.5:n.347C>T