Canonical Allele Identifier: CA145953
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92702
dbSNP Id: rs71534236

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23544950C>G , CM000680.2:g.23544950C>G GRCh38
NC_000018.9:g.21124914C>G , CM000680.1:g.21124914C>G GRCh37
NC_000018.8:g.19378912C>G NCBI36
NG_012795.1:g.46668G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.1947+10G>C MANE Select ENSP00000269228.4:p.=
ENST00000269228.9:c.1947+10G>C ENSP00000269228.4:p.=
ENST00000540608.5:n.1861+10G>C
ENST00000591051.1:n.1025+10G>C
NM_000271.4:c.1947+10G>C NP_000262.2:p.=
XM_005258277.1:c.1998+10G>C XP_005258334.1:p.=
XM_005258278.3:c.1998+10G>C XP_005258335.1:p.=
XM_005258279.1:c.1947+10G>C XP_005258336.1:p.=
XM_006722479.2:c.1998+10G>C XP_006722542.1:p.=
XM_011526015.1:c.1533+10G>C XP_011524317.1:p.=
XM_005258278.5:c.1998+10G>C XP_005258335.1:p.=
XM_005258279.2:c.1947+10G>C XP_005258336.1:p.=
XM_006722479.3:c.1998+10G>C XP_006722542.1:p.=
XM_017025784.1:c.1998+10G>C XP_016881273.1:p.=
XM_017025785.1:c.1998+10G>C XP_016881274.1:p.=
XM_017025786.1:c.1947+10G>C XP_016881275.1:p.=
XM_017025787.1:c.1947+10G>C XP_016881276.1:p.=
NM_000271.5:c.1947+10G>C MANE Select NP_000262.2:p.=