Canonical Allele Identifier: CA16043538

Gene: NPC1

Linked Data

• ClinVar Variation Id: 374166
• ClinVar RCV Id: RCV000414757 ; RCV001861450
• dbSNP Id: rs113371321
• MyVariant Identifiers: chr18:g.21114441G>C (hg19) ; chr18:g.23534477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534477G>C , CM000680.2:g.23534477G>C	GRCh38
NC_000018.9:g.21114441G>C , CM000680.1:g.21114441G>C	GRCh37
NC_000018.8:g.19368439G>C	NCBI36
NG_012795.1:g.57141C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3560C>G MANE Select	ENSP00000269228.4:p.Ala1187Gly
ENST00000269228.9:c.3560C>G	ENSP00000269228.4:p.Ala1187Gly
ENST00000586150.5:c.315C>G
ENST00000587163.1:n.84C>G
ENST00000588867.1:n.315C>G
ENST00000591051.1:c.2638C>G
ENST00000591107.6:c.237C>G
NM_000271.4:c.3560C>G	NP_000262.2:p.Ala1187Gly
XM_005258277.1:c.3611C>G	XP_005258334.1:p.Ala1204Gly
XM_005258278.3:c.3611C>G	XP_005258335.1:p.Ala1204Gly
XM_005258279.1:c.3560C>G	XP_005258336.1:p.Ala1187Gly
XM_006722479.2:c.3611C>G	XP_006722542.1:p.Ala1204Gly
XM_011526015.1:c.3146C>G	XP_011524317.1:p.Ala1049Gly
XM_005258278.5:c.3611C>G	XP_005258335.1:p.Ala1204Gly
XM_005258279.2:c.3560C>G	XP_005258336.1:p.Ala1187Gly
XM_006722479.3:c.3611C>G	XP_006722542.1:p.Ala1204Gly
XM_017025784.1:c.3611C>G	XP_016881273.1:p.Ala1204Gly
XM_017025785.1:c.3611C>G	XP_016881274.1:p.Ala1204Gly
XM_017025786.1:c.3560C>G	XP_016881275.1:p.Ala1187Gly
XM_017025787.1:c.3560C>G	XP_016881276.1:p.Ala1187Gly
NM_000271.5:c.3560C>G MANE Select	NP_000262.2:p.Ala1187Gly