Canonical Allele Identifier: CA297062945
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 891970
ClinVar RCV Id: RCV001127620
dbSNP Id: rs201156397

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23548091C>A , CM000680.2:g.23548091C>A GRCh38
NC_000018.9:g.21128055C>A , CM000680.1:g.21128055C>A GRCh37
NC_000018.8:g.19382053C>A NCBI36
NG_012795.1:g.43527G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.1672G>T MANE Select ENSP00000269228.4:p.Ala558Ser
ENST00000269228.9:c.1672G>T ENSP00000269228.4:p.Ala558Ser
ENST00000540608.5:n.1586G>T
ENST00000591051.1:c.836-2942G>T
NM_000271.4:c.1672G>T NP_000262.2:p.Ala558Ser
XM_005258277.1:c.1723G>T XP_005258334.1:p.Ala575Ser
XM_005258278.3:c.1723G>T XP_005258335.1:p.Ala575Ser
XM_005258279.1:c.1672G>T XP_005258336.1:p.Ala558Ser
XM_006722479.2:c.1723G>T XP_006722542.1:p.Ala575Ser
XM_011526015.1:c.1258G>T XP_011524317.1:p.Ala420Ser
XM_005258278.5:c.1723G>T XP_005258335.1:p.Ala575Ser
XM_005258279.2:c.1672G>T XP_005258336.1:p.Ala558Ser
XM_006722479.3:c.1723G>T XP_006722542.1:p.Ala575Ser
XM_017025784.1:c.1723G>T XP_016881273.1:p.Ala575Ser
XM_017025785.1:c.1723G>T XP_016881274.1:p.Ala575Ser
XM_017025786.1:c.1672G>T XP_016881275.1:p.Ala558Ser
XM_017025787.1:c.1672G>T XP_016881276.1:p.Ala558Ser
NM_000271.5:c.1672G>T MANE Select NP_000262.2:p.Ala558Ser