Canonical Allele Identifier: CA401790774

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21113447C>A (hg19) ; chr18:g.23533483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533483C>A , CM000680.2:g.23533483C>A	GRCh38
NC_000018.9:g.21113447C>A , CM000680.1:g.21113447C>A	GRCh37
NC_000018.8:g.19367445C>A	NCBI36
NG_012795.1:g.58135G>T
NG_033119.1:g.35014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3626G>T MANE Select	ENSP00000269228.4:p.Gly1209Val
ENST00000269228.9:c.3626G>T	ENSP00000269228.4:p.Gly1209Val
ENST00000586150.5:c.381G>T
ENST00000587163.1:n.150G>T
ENST00000588867.1:n.1309G>T
ENST00000590723.5:c.35G>T	ENSP00000464755.1:p.Gly12Val
ENST00000591051.1:c.2704G>T
ENST00000591107.6:c.303G>T
NM_000271.4:c.3626G>T	NP_000262.2:p.Gly1209Val
XM_005258277.1:c.3677G>T	XP_005258334.1:p.Gly1226Val
XM_005258278.3:c.3677G>T	XP_005258335.1:p.Gly1226Val
XM_005258279.1:c.3626G>T	XP_005258336.1:p.Gly1209Val
XM_006722479.2:c.3677G>T	XP_006722542.1:p.Gly1226Val
XM_011526015.1:c.3212G>T	XP_011524317.1:p.Gly1071Val
XM_005258278.5:c.3677G>T	XP_005258335.1:p.Gly1226Val
XM_005258279.2:c.3626G>T	XP_005258336.1:p.Gly1209Val
XM_006722479.3:c.3677G>T	XP_006722542.1:p.Gly1226Val
XM_017025784.1:c.3677G>T	XP_016881273.1:p.Gly1226Val
XM_017025785.1:c.3677G>T	XP_016881274.1:p.Gly1226Val
XM_017025786.1:c.3626G>T	XP_016881275.1:p.Gly1209Val
XM_017025787.1:c.3626G>T	XP_016881276.1:p.Gly1209Val
NM_000271.5:c.3626G>T MANE Select	NP_000262.2:p.Gly1209Val