Canonical Allele Identifier: CA628978766

Gene: NPC1

Linked Data

• dbSNP Id: rs1259921448
• gnomAD v2: 18-21119891-C-CA
• gnomAD v4: 18-23539927-C-CA
• MyVariant Identifiers: chr18:g.21119891_21119892insA (hg19) ; chr18:g.23539927_23539928insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539928dup , CM000680.2:g.23539928dup	GRCh38
NC_000018.9:g.21119892dup , CM000680.1:g.21119892dup	GRCh37
NC_000018.8:g.19373890dup	NCBI36
NG_012795.1:g.51690dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2678dup MANE Select	ENSP00000269228.4:p.Glu894GlyfsTer24
ENST00000269228.9:c.2678dup	ENSP00000269228.4:p.Glu894GlyfsTer24
ENST00000540608.5:n.2592dup
ENST00000586718.1:n.469dup
ENST00000591051.1:c.1756dup
NM_000271.4:c.2678dup	NP_000262.2:p.Glu894GlyfsTer24
XM_005258277.1:c.2729dup	XP_005258334.1:p.Glu911GlyfsTer24
XM_005258278.3:c.2729dup	XP_005258335.1:p.Glu911GlyfsTer24
XM_005258279.1:c.2678dup	XP_005258336.1:p.Glu894GlyfsTer24
XM_006722479.2:c.2729dup	XP_006722542.1:p.Glu911GlyfsTer24
XM_011526015.1:c.2264dup	XP_011524317.1:p.Glu756GlyfsTer24
XM_005258278.5:c.2729dup	XP_005258335.1:p.Glu911GlyfsTer24
XM_005258279.2:c.2678dup	XP_005258336.1:p.Glu894GlyfsTer24
XM_006722479.3:c.2729dup	XP_006722542.1:p.Glu911GlyfsTer24
XM_017025784.1:c.2729dup	XP_016881273.1:p.Glu911GlyfsTer24
XM_017025785.1:c.2729dup	XP_016881274.1:p.Glu911GlyfsTer24
XM_017025786.1:c.2678dup	XP_016881275.1:p.Glu894GlyfsTer24
XM_017025787.1:c.2678dup	XP_016881276.1:p.Glu894GlyfsTer24
NM_000271.5:c.2678dup MANE Select	NP_000262.2:p.Glu894GlyfsTer24