Canonical Allele Identifier: CA628978748

Gene: NPC1

Linked Data

• dbSNP Id: rs1231167651
• gnomAD v2: 18-21119749-G-A
• gnomAD v4: 18-23539785-G-A
• MyVariant Identifiers: chr18:g.21119749G>A (hg19) ; chr18:g.23539785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539785G>A , CM000680.2:g.23539785G>A	GRCh38
NC_000018.9:g.21119749G>A , CM000680.1:g.21119749G>A	GRCh37
NC_000018.8:g.19373747G>A	NCBI36
NG_012795.1:g.51833C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2795+26C>T MANE Select	ENSP00000269228.4:n.2795+26C>T
ENST00000269228.9:c.2795+26C>T	ENSP00000269228.4:n.2795+26C>T
ENST00000540608.5:n.2735C>T
ENST00000591051.1:c.1873+26C>T
ENST00000591075.1:n.114C>T
NM_000271.4:c.2795+26C>T	NP_000262.2:n.2795+26C>T
XM_005258277.1:c.2846+26C>T	XP_005258334.1:n.2846+26C>T
XM_005258278.3:c.2846+26C>T	XP_005258335.1:n.2846+26C>T
XM_005258279.1:c.2795+26C>T	XP_005258336.1:n.2795+26C>T
XM_006722479.2:c.2846+26C>T	XP_006722542.1:n.2846+26C>T
XM_011526015.1:c.2381+26C>T	XP_011524317.1:n.2381+26C>T
XM_005258278.5:c.2846+26C>T	XP_005258335.1:n.2846+26C>T
XM_005258279.2:c.2795+26C>T	XP_005258336.1:n.2795+26C>T
XM_006722479.3:c.2846+26C>T	XP_006722542.1:n.2846+26C>T
XM_017025784.1:c.2846+26C>T	XP_016881273.1:n.2846+26C>T
XM_017025785.1:c.2846+26C>T	XP_016881274.1:n.2846+26C>T
XM_017025786.1:c.2795+26C>T	XP_016881275.1:n.2795+26C>T
XM_017025787.1:c.2795+26C>T	XP_016881276.1:n.2795+26C>T
NM_000271.5:c.2795+26C>T MANE Select	NP_000262.2:n.2795+26C>T