Canonical Allele Identifier: CA252496
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2957
ClinVar RCV Id: RCV000003091
dbSNP Id: rs28940897

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23539823T>G , CM000680.2:g.23539823T>G GRCh38
NC_000018.9:g.21119787T>G , CM000680.1:g.21119787T>G GRCh37
NC_000018.8:g.19373785T>G NCBI36
NG_012795.1:g.51795A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.2783A>C MANE Select ENSP00000269228.4:p.Gln928Pro
ENST00000269228.9:c.2783A>C ENSP00000269228.4:p.Gln928Pro
ENST00000540608.5:n.2697A>C
ENST00000586718.1:n.574A>C
ENST00000591051.1:c.1861A>C
ENST00000591075.1:n.76A>C
NM_000271.4:c.2783A>C NP_000262.2:p.Gln928Pro
XM_005258277.1:c.2834A>C XP_005258334.1:p.Gln945Pro
XM_005258278.3:c.2834A>C XP_005258335.1:p.Gln945Pro
XM_005258279.1:c.2783A>C XP_005258336.1:p.Gln928Pro
XM_006722479.2:c.2834A>C XP_006722542.1:p.Gln945Pro
XM_011526015.1:c.2369A>C XP_011524317.1:p.Gln790Pro
XM_005258278.5:c.2834A>C XP_005258335.1:p.Gln945Pro
XM_005258279.2:c.2783A>C XP_005258336.1:p.Gln928Pro
XM_006722479.3:c.2834A>C XP_006722542.1:p.Gln945Pro
XM_017025784.1:c.2834A>C XP_016881273.1:p.Gln945Pro
XM_017025785.1:c.2834A>C XP_016881274.1:p.Gln945Pro
XM_017025786.1:c.2783A>C XP_016881275.1:p.Gln928Pro
XM_017025787.1:c.2783A>C XP_016881276.1:p.Gln928Pro
NM_000271.5:c.2783A>C MANE Select NP_000262.2:p.Gln928Pro