Canonical Allele Identifier: CA628677227

Gene: NPC1

Linked Data

• dbSNP Id: rs1180258980
• gnomAD v2: 18-21112293-A-T
• gnomAD v4: 18-23532329-A-T
• MyVariant Identifiers: chr18:g.21112293A>T (hg19) ; chr18:g.23532329A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532329A>T , CM000680.2:g.23532329A>T	GRCh38
NC_000018.9:g.21112293A>T , CM000680.1:g.21112293A>T	GRCh37
NC_000018.8:g.19366291A>T	NCBI36
NG_012795.1:g.59289T>A
NG_033119.1:g.33860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3755-45T>A MANE Select	ENSP00000269228.4:n.3755-45T>A
ENST00000269228.9:c.3755-45T>A	ENSP00000269228.4:n.3755-45T>A
ENST00000586150.5:c.509+1026T>A
ENST00000588867.1:n.1438-45T>A
ENST00000590723.5:c.163+1026T>A	ENSP00000464755.1:n.163+1026T>A
ENST00000591051.1:c.2833-45T>A
ENST00000591107.6:c.431+1026T>A
ENST00000593280.2:c.86+1026T>A
NM_000271.4:c.3755-45T>A	NP_000262.2:n.3755-45T>A
XM_005258277.1:c.3805+1026T>A	XP_005258334.1:n.3805+1026T>A
XM_005258278.3:c.3806-45T>A	XP_005258335.1:n.3806-45T>A
XM_005258279.1:c.3754+1026T>A	XP_005258336.1:n.3754+1026T>A
XM_006722479.2:c.3805+1026T>A	XP_006722542.1:n.3805+1026T>A
XM_011526015.1:c.3340+1026T>A	XP_011524317.1:n.3340+1026T>A
XM_005258278.5:c.3806-45T>A	XP_005258335.1:n.3806-45T>A
XM_005258279.2:c.3754+1026T>A	XP_005258336.1:n.3754+1026T>A
XM_006722479.3:c.3805+1026T>A	XP_006722542.1:n.3805+1026T>A
XM_017025784.1:c.3805+1026T>A	XP_016881273.1:n.3805+1026T>A
XM_017025785.1:c.3805+1026T>A	XP_016881274.1:n.3805+1026T>A
XM_017025786.1:c.3754+1026T>A	XP_016881275.1:n.3754+1026T>A
XM_017025787.1:c.3754+1026T>A	XP_016881276.1:n.3754+1026T>A
NM_000271.5:c.3755-45T>A MANE Select	NP_000262.2:n.3755-45T>A