Canonical Allele Identifier: CA2590760079

Gene: NPC1

Linked Data

• gnomAD v3: 18-23556287-C-CA
• gnomAD v4: 18-23556287-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556288dup , CM000680.2:g.23556288dup	GRCh38
NC_000018.9:g.21136252dup , CM000680.1:g.21136252dup	GRCh37
NC_000018.8:g.19390250dup	NCBI36
NG_012795.1:g.35330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1281dup MANE Select	ENSP00000269228.4:p.Asp428Ter
ENST00000269228.9:c.1281dup	ENSP00000269228.4:p.Asp428Ter
ENST00000540608.5:n.1195dup
ENST00000591051.1:c.563dup
NM_000271.4:c.1281dup	NP_000262.2:p.Asp428Ter
XM_005258277.1:c.1332dup	XP_005258334.1:p.Asp445Ter
XM_005258278.3:c.1332dup	XP_005258335.1:p.Asp445Ter
XM_005258279.1:c.1281dup	XP_005258336.1:p.Asp428Ter
XM_006722479.2:c.1332dup	XP_006722542.1:p.Asp445Ter
XM_011526015.1:c.867dup	XP_011524317.1:p.Asp290Ter
XM_005258278.5:c.1332dup	XP_005258335.1:p.Asp445Ter
XM_005258279.2:c.1281dup	XP_005258336.1:p.Asp428Ter
XM_006722479.3:c.1332dup	XP_006722542.1:p.Asp445Ter
XM_017025784.1:c.1332dup	XP_016881273.1:p.Asp445Ter
XM_017025785.1:c.1332dup	XP_016881274.1:p.Asp445Ter
XM_017025786.1:c.1281dup	XP_016881275.1:p.Asp428Ter
XM_017025787.1:c.1281dup	XP_016881276.1:p.Asp428Ter
NM_000271.5:c.1281dup MANE Select	NP_000262.2:p.Asp428Ter