Canonical Allele Identifier: CA2590728659

Gene: NPC1

Linked Data

• dbSNP Id: rs2145365948
• gnomAD v3: 18-23538511-G-A
• gnomAD v4: 18-23538511-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538511G>A , CM000680.2:g.23538511G>A	GRCh38
NC_000018.9:g.21118475G>A , CM000680.1:g.21118475G>A	GRCh37
NC_000018.8:g.19372473G>A	NCBI36
NG_012795.1:g.53107C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3041+31C>T MANE Select	ENSP00000269228.4:n.3041+31C>T
ENST00000269228.9:c.3041+31C>T	ENSP00000269228.4:n.3041+31C>T
ENST00000591051.1:c.2119+31C>T
ENST00000591075.1:n.674+31C>T
ENST00000591955.1:n.384+31C>T
NM_000271.4:c.3041+31C>T	NP_000262.2:n.3041+31C>T
XM_005258277.1:c.3092+31C>T	XP_005258334.1:n.3092+31C>T
XM_005258278.3:c.3092+31C>T	XP_005258335.1:n.3092+31C>T
XM_005258279.1:c.3041+31C>T	XP_005258336.1:n.3041+31C>T
XM_006722479.2:c.3092+31C>T	XP_006722542.1:n.3092+31C>T
XM_011526015.1:c.2627+31C>T	XP_011524317.1:n.2627+31C>T
XM_005258278.5:c.3092+31C>T	XP_005258335.1:n.3092+31C>T
XM_005258279.2:c.3041+31C>T	XP_005258336.1:n.3041+31C>T
XM_006722479.3:c.3092+31C>T	XP_006722542.1:n.3092+31C>T
XM_017025784.1:c.3092+31C>T	XP_016881273.1:n.3092+31C>T
XM_017025785.1:c.3092+31C>T	XP_016881274.1:n.3092+31C>T
XM_017025786.1:c.3041+31C>T	XP_016881275.1:n.3041+31C>T
XM_017025787.1:c.3041+31C>T	XP_016881276.1:n.3041+31C>T
NM_000271.5:c.3041+31C>T MANE Select	NP_000262.2:n.3041+31C>T