Canonical Allele Identifier: CA2580095674
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705783
ClinVar RCV Id: RCV002284093

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23556334dup , CM000680.2:g.23556334dup GRCh38
NC_000018.9:g.21136298dup , CM000680.1:g.21136298dup GRCh37
NC_000018.8:g.19390296dup NCBI36
NG_012795.1:g.35287dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.1238dup MANE Select ENSP00000269228.4:p.Leu414SerfsTer3
ENST00000269228.9:c.1238dup ENSP00000269228.4:p.Leu414SerfsTer3
ENST00000540608.5:n.1152dup
ENST00000591051.1:c.520dup
NM_000271.4:c.1238dup NP_000262.2:p.Leu414SerfsTer3
XM_005258277.1:c.1289dup XP_005258334.1:p.Leu431SerfsTer3
XM_005258278.3:c.1289dup XP_005258335.1:p.Leu431SerfsTer3
XM_005258279.1:c.1238dup XP_005258336.1:p.Leu414SerfsTer3
XM_006722479.2:c.1289dup XP_006722542.1:p.Leu431SerfsTer3
XM_011526015.1:c.824dup XP_011524317.1:p.Leu276SerfsTer3
XM_005258278.5:c.1289dup XP_005258335.1:p.Leu431SerfsTer3
XM_005258279.2:c.1238dup XP_005258336.1:p.Leu414SerfsTer3
XM_006722479.3:c.1289dup XP_006722542.1:p.Leu431SerfsTer3
XM_017025784.1:c.1289dup XP_016881273.1:p.Leu431SerfsTer3
XM_017025785.1:c.1289dup XP_016881274.1:p.Leu431SerfsTer3
XM_017025786.1:c.1238dup XP_016881275.1:p.Leu414SerfsTer3
XM_017025787.1:c.1238dup XP_016881276.1:p.Leu414SerfsTer3
NM_000271.5:c.1238dup MANE Select NP_000262.2:p.Leu414SerfsTer3