Canonical Allele Identifier: CA2697555334

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2729490
• ClinVar RCV Id: RCV003501595

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538686C>T , CM000680.2:g.23538686C>T	GRCh38
NC_000018.9:g.21118650C>T , CM000680.1:g.21118650C>T	GRCh37
NC_000018.8:g.19372648C>T	NCBI36
NG_012795.1:g.52932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2912-15G>A MANE Select	ENSP00000269228.4:n.2912-15G>A
ENST00000269228.9:c.2912-15G>A	ENSP00000269228.4:n.2912-15G>A
ENST00000591051.1:c.1990-15G>A
ENST00000591075.1:n.545-15G>A
ENST00000591955.1:n.240G>A
NM_000271.4:c.2912-15G>A	NP_000262.2:n.2912-15G>A
XM_005258277.1:c.2963-15G>A	XP_005258334.1:n.2963-15G>A
XM_005258278.3:c.2963-15G>A	XP_005258335.1:n.2963-15G>A
XM_005258279.1:c.2912-15G>A	XP_005258336.1:n.2912-15G>A
XM_006722479.2:c.2963-15G>A	XP_006722542.1:n.2963-15G>A
XM_011526015.1:c.2498-15G>A	XP_011524317.1:n.2498-15G>A
XM_005258278.5:c.2963-15G>A	XP_005258335.1:n.2963-15G>A
XM_005258279.2:c.2912-15G>A	XP_005258336.1:n.2912-15G>A
XM_006722479.3:c.2963-15G>A	XP_006722542.1:n.2963-15G>A
XM_017025784.1:c.2963-15G>A	XP_016881273.1:n.2963-15G>A
XM_017025785.1:c.2963-15G>A	XP_016881274.1:n.2963-15G>A
XM_017025786.1:c.2912-15G>A	XP_016881275.1:n.2912-15G>A
XM_017025787.1:c.2912-15G>A	XP_016881276.1:n.2912-15G>A
NM_000271.5:c.2912-15G>A MANE Select	NP_000262.2:n.2912-15G>A