Canonical Allele Identifier: CA8912993
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282573
dbSNP Id: rs560122245

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23539894C>A , CM000680.2:g.23539894C>A GRCh38
NC_000018.9:g.21119858C>A , CM000680.1:g.21119858C>A GRCh37
NC_000018.8:g.19373856C>A NCBI36
NG_012795.1:g.51724G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.2712G>T MANE Select ENSP00000269228.4:p.Gly904=
ENST00000269228.9:c.2712G>T ENSP00000269228.4:p.Gly904=
ENST00000540608.5:n.2626G>T
ENST00000586718.1:n.503G>T
ENST00000591051.1:c.1790G>T
ENST00000591075.1:n.5G>T
NM_000271.4:c.2712G>T NP_000262.2:p.Gly904=
XM_005258277.1:c.2763G>T XP_005258334.1:p.Gly921=
XM_005258278.3:c.2763G>T XP_005258335.1:p.Gly921=
XM_005258279.1:c.2712G>T XP_005258336.1:p.Gly904=
XM_006722479.2:c.2763G>T XP_006722542.1:p.Gly921=
XM_011526015.1:c.2298G>T XP_011524317.1:p.Gly766=
XM_005258278.5:c.2763G>T XP_005258335.1:p.Gly921=
XM_005258279.2:c.2712G>T XP_005258336.1:p.Gly904=
XM_006722479.3:c.2763G>T XP_006722542.1:p.Gly921=
XM_017025784.1:c.2763G>T XP_016881273.1:p.Gly921=
XM_017025785.1:c.2763G>T XP_016881274.1:p.Gly921=
XM_017025786.1:c.2712G>T XP_016881275.1:p.Gly904=
XM_017025787.1:c.2712G>T XP_016881276.1:p.Gly904=
NM_000271.5:c.2712G>T MANE Select NP_000262.2:p.Gly904=