Canonical Allele Identifier: CA401792230
Gene: NPC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23538614G>T , CM000680.2:g.23538614G>T GRCh38
NC_000018.9:g.21118578G>T , CM000680.1:g.21118578G>T GRCh37
NC_000018.8:g.19372576G>T NCBI36
NG_012795.1:g.53004C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.2969C>A MANE Select ENSP00000269228.4:p.Pro990His
ENST00000269228.9:c.2969C>A ENSP00000269228.4:p.Pro990His
ENST00000591051.1:c.2047C>A
ENST00000591075.1:n.602C>A
ENST00000591955.1:n.312C>A
NM_000271.4:c.2969C>A NP_000262.2:p.Pro990His
XM_005258277.1:c.3020C>A XP_005258334.1:p.Pro1007His
XM_005258278.3:c.3020C>A XP_005258335.1:p.Pro1007His
XM_005258279.1:c.2969C>A XP_005258336.1:p.Pro990His
XM_006722479.2:c.3020C>A XP_006722542.1:p.Pro1007His
XM_011526015.1:c.2555C>A XP_011524317.1:p.Pro852His
XM_005258278.5:c.3020C>A XP_005258335.1:p.Pro1007His
XM_005258279.2:c.2969C>A XP_005258336.1:p.Pro990His
XM_006722479.3:c.3020C>A XP_006722542.1:p.Pro1007His
XM_017025784.1:c.3020C>A XP_016881273.1:p.Pro1007His
XM_017025785.1:c.3020C>A XP_016881274.1:p.Pro1007His
XM_017025786.1:c.2969C>A XP_016881275.1:p.Pro990His
XM_017025787.1:c.2969C>A XP_016881276.1:p.Pro990His
NM_000271.5:c.2969C>A MANE Select NP_000262.2:p.Pro990His