Canonical Allele Identifier: CA297012
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 181456
dbSNP Id: rs730880963

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23539829G>A , CM000680.2:g.23539829G>A GRCh38
NC_000018.9:g.21119793G>A , CM000680.1:g.21119793G>A GRCh37
NC_000018.8:g.19373791G>A NCBI36
NG_012795.1:g.51789C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.2777C>T MANE Select ENSP00000269228.4:p.Ala926Val
ENST00000269228.9:c.2777C>T ENSP00000269228.4:p.Ala926Val
ENST00000540608.5:n.2691C>T
ENST00000586718.1:n.568C>T
ENST00000591051.1:c.1855C>T
ENST00000591075.1:n.70C>T
NM_000271.4:c.2777C>T NP_000262.2:p.Ala926Val
XM_005258277.1:c.2828C>T XP_005258334.1:p.Ala943Val
XM_005258278.3:c.2828C>T XP_005258335.1:p.Ala943Val
XM_005258279.1:c.2777C>T XP_005258336.1:p.Ala926Val
XM_006722479.2:c.2828C>T XP_006722542.1:p.Ala943Val
XM_011526015.1:c.2363C>T XP_011524317.1:p.Ala788Val
XM_005258278.5:c.2828C>T XP_005258335.1:p.Ala943Val
XM_005258279.2:c.2777C>T XP_005258336.1:p.Ala926Val
XM_006722479.3:c.2828C>T XP_006722542.1:p.Ala943Val
XM_017025784.1:c.2828C>T XP_016881273.1:p.Ala943Val
XM_017025785.1:c.2828C>T XP_016881274.1:p.Ala943Val
XM_017025786.1:c.2777C>T XP_016881275.1:p.Ala926Val
XM_017025787.1:c.2777C>T XP_016881276.1:p.Ala926Val
NM_000271.5:c.2777C>T MANE Select NP_000262.2:p.Ala926Val