Canonical Allele Identifier: CA8913360
Gene: NPC1 HGNC NCBI

Linked Data

dbSNP Id: rs773351341

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23545063C>A , CM000680.2:g.23545063C>A GRCh38
NC_000018.9:g.21125027C>A , CM000680.1:g.21125027C>A GRCh37
NC_000018.8:g.19379025C>A NCBI36
NG_012795.1:g.46555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.1844G>T MANE Select ENSP00000269228.4:p.Arg615Leu
ENST00000269228.9:c.1844G>T ENSP00000269228.4:p.Arg615Leu
ENST00000540608.5:n.1758G>T
ENST00000591051.1:c.922G>T
NM_000271.4:c.1844G>T NP_000262.2:p.Arg615Leu
XM_005258277.1:c.1895G>T XP_005258334.1:p.Arg632Leu
XM_005258278.3:c.1895G>T XP_005258335.1:p.Arg632Leu
XM_005258279.1:c.1844G>T XP_005258336.1:p.Arg615Leu
XM_006722479.2:c.1895G>T XP_006722542.1:p.Arg632Leu
XM_011526015.1:c.1430G>T XP_011524317.1:p.Arg477Leu
XM_005258278.5:c.1895G>T XP_005258335.1:p.Arg632Leu
XM_005258279.2:c.1844G>T XP_005258336.1:p.Arg615Leu
XM_006722479.3:c.1895G>T XP_006722542.1:p.Arg632Leu
XM_017025784.1:c.1895G>T XP_016881273.1:p.Arg632Leu
XM_017025785.1:c.1895G>T XP_016881274.1:p.Arg632Leu
XM_017025786.1:c.1844G>T XP_016881275.1:p.Arg615Leu
XM_017025787.1:c.1844G>T XP_016881276.1:p.Arg615Leu
NM_000271.5:c.1844G>T MANE Select NP_000262.2:p.Arg615Leu