Canonical Allele Identifier: CA2290162088

Gene: NPC1

Linked Data

• dbSNP Id: rs2058533373
• gnomAD v4: 18-23532193-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23532193G>A , CM000680.2:g.23532193G>A	GRCh38
NC_000018.9:g.21112157G>A , CM000680.1:g.21112157G>A	GRCh37
NC_000018.8:g.19366155G>A	NCBI36
NG_012795.1:g.59425C>T
NG_033119.1:g.33724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.*9C>T MANE Select	ENSP00000269228.4:n.*9C>T
ENST00000269228.9:c.*9C>T	ENSP00000269228.4:n.*9C>T
ENST00000586150.5:c.509+1162C>T
ENST00000588867.1:n.1529C>T
ENST00000590723.5:c.163+1162C>T	ENSP00000464755.1:n.163+1162C>T
ENST00000591051.1:c.2924C>T
ENST00000591107.6:c.431+1162C>T
ENST00000593280.2:c.86+1162C>T
NM_000271.4:c.*9C>T	NP_000262.2:n.*9C>T
XM_005258277.1:c.3805+1162C>T	XP_005258334.1:n.3805+1162C>T
XM_005258278.3:c.*9C>T	XP_005258335.1:n.*9C>T
XM_005258279.1:c.3754+1162C>T	XP_005258336.1:n.3754+1162C>T
XM_006722479.2:c.3805+1162C>T	XP_006722542.1:n.3805+1162C>T
XM_011526015.1:c.3340+1162C>T	XP_011524317.1:n.3340+1162C>T
XM_005258278.5:c.*9C>T	XP_005258335.1:n.*9C>T
XM_005258279.2:c.3754+1162C>T	XP_005258336.1:n.3754+1162C>T
XM_006722479.3:c.3805+1162C>T	XP_006722542.1:n.3805+1162C>T
XM_017025784.1:c.3805+1162C>T	XP_016881273.1:n.3805+1162C>T
XM_017025785.1:c.3805+1162C>T	XP_016881274.1:n.3805+1162C>T
XM_017025786.1:c.3754+1162C>T	XP_016881275.1:n.3754+1162C>T
XM_017025787.1:c.3754+1162C>T	XP_016881276.1:n.3754+1162C>T
NM_000271.5:c.*9C>T MANE Select	NP_000262.2:n.*9C>T