Canonical Allele Identifier: CA401792657

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2855152
• ClinVar RCV Id: RCV003605342
• MyVariant Identifiers: chr18:g.21119790G>C (hg19) ; chr18:g.23539826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539826G>C , CM000680.2:g.23539826G>C	GRCh38
NC_000018.9:g.21119790G>C , CM000680.1:g.21119790G>C	GRCh37
NC_000018.8:g.19373788G>C	NCBI36
NG_012795.1:g.51792C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2780C>G MANE Select	ENSP00000269228.4:p.Ala927Gly
ENST00000269228.9:c.2780C>G	ENSP00000269228.4:p.Ala927Gly
ENST00000540608.5:n.2694C>G
ENST00000586718.1:n.571C>G
ENST00000591051.1:c.1858C>G
ENST00000591075.1:n.73C>G
NM_000271.4:c.2780C>G	NP_000262.2:p.Ala927Gly
XM_005258277.1:c.2831C>G	XP_005258334.1:p.Ala944Gly
XM_005258278.3:c.2831C>G	XP_005258335.1:p.Ala944Gly
XM_005258279.1:c.2780C>G	XP_005258336.1:p.Ala927Gly
XM_006722479.2:c.2831C>G	XP_006722542.1:p.Ala944Gly
XM_011526015.1:c.2366C>G	XP_011524317.1:p.Ala789Gly
XM_005258278.5:c.2831C>G	XP_005258335.1:p.Ala944Gly
XM_005258279.2:c.2780C>G	XP_005258336.1:p.Ala927Gly
XM_006722479.3:c.2831C>G	XP_006722542.1:p.Ala944Gly
XM_017025784.1:c.2831C>G	XP_016881273.1:p.Ala944Gly
XM_017025785.1:c.2831C>G	XP_016881274.1:p.Ala944Gly
XM_017025786.1:c.2780C>G	XP_016881275.1:p.Ala927Gly
XM_017025787.1:c.2780C>G	XP_016881276.1:p.Ala927Gly
NM_000271.5:c.2780C>G MANE Select	NP_000262.2:p.Ala927Gly