Canonical Allele Identifier: CA8913513

Gene: NPC1

Linked Data

• dbSNP Id: rs772785139
• ExAC: 18:21136301 CG / C
• gnomAD v2: 18-21136301-CG-C
• gnomAD v4: 18-23556337-CG-C
• MyVariant Identifiers: chr18:g.21136302del (hg19) ; chr18:g.23556338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556339del , CM000680.2:g.23556339del	GRCh38
NC_000018.9:g.21136303del , CM000680.1:g.21136303del	GRCh37
NC_000018.8:g.19390301del	NCBI36
NG_012795.1:g.35280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1231del MANE Select	ENSP00000269228.4:p.Arg411GlyfsTer?
ENST00000269228.9:c.1231del	ENSP00000269228.4:p.Arg411GlyfsTer?
ENST00000540608.5:n.1145del
ENST00000591051.1:c.513del
NM_000271.4:c.1231del	NP_000262.2:p.Arg411GlyfsTer?
XM_005258277.1:c.1282del	XP_005258334.1:p.Arg428GlyfsTer?
XM_005258278.3:c.1282del	XP_005258335.1:p.Arg428GlyfsTer?
XM_005258279.1:c.1231del	XP_005258336.1:p.Arg411GlyfsTer?
XM_006722479.2:c.1282del	XP_006722542.1:p.Arg428GlyfsTer?
XM_011526015.1:c.817del	XP_011524317.1:p.Arg273GlyfsTer?
XM_005258278.5:c.1282del	XP_005258335.1:p.Arg428GlyfsTer?
XM_005258279.2:c.1231del	XP_005258336.1:p.Arg411GlyfsTer?
XM_006722479.3:c.1282del	XP_006722542.1:p.Arg428GlyfsTer?
XM_017025784.1:c.1282del	XP_016881273.1:p.Arg428GlyfsTer?
XM_017025785.1:c.1282del	XP_016881274.1:p.Arg428GlyfsTer?
XM_017025786.1:c.1231del	XP_016881275.1:p.Arg411GlyfsTer?
XM_017025787.1:c.1231del	XP_016881276.1:p.Arg411GlyfsTer?
NM_000271.5:c.1231del MANE Select	NP_000262.2:p.Arg411GlyfsTer?