Canonical Allele Identifier: CA401775772

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554893G>C , CM000680.2:g.23554893G>C	GRCh38
NC_000018.9:g.21134857G>C , CM000680.1:g.21134857G>C	GRCh37
NC_000018.8:g.19388855G>C	NCBI36
NG_012795.1:g.36725C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.1418C>G MANE Select	NP_000262.2:p.Ser473Ter
ENST00000269228.10:c.1418C>G MANE Select	ENSP00000269228.4:p.Ser473Ter
NM_000271.4:c.1418C>G	NP_000262.2:p.Ser473Ter
ENST00000269228.9:c.1418C>G	ENSP00000269228.4:p.Ser473Ter
ENST00000540608.5:n.1332C>G
ENST00000590301.1:n.93C>G
ENST00000591051.1:c.700C>G
XM_005258277.1:c.1469C>G	XP_005258334.1:p.Ser490Ter
XM_005258278.3:c.1469C>G	XP_005258335.1:p.Ser490Ter
XM_005258278.5:c.1469C>G	XP_005258335.1:p.Ser490Ter
XM_005258279.1:c.1418C>G	XP_005258336.1:p.Ser473Ter
XM_005258279.2:c.1418C>G	XP_005258336.1:p.Ser473Ter
XM_006722479.2:c.1469C>G	XP_006722542.1:p.Ser490Ter
XM_006722479.3:c.1469C>G	XP_006722542.1:p.Ser490Ter
XM_011526015.1:c.1004C>G	XP_011524317.1:p.Ser335Ter
XM_017025784.1:c.1469C>G	XP_016881273.1:p.Ser490Ter
XM_017025785.1:c.1469C>G	XP_016881274.1:p.Ser490Ter
XM_017025786.1:c.1418C>G	XP_016881275.1:p.Ser473Ter
XM_017025787.1:c.1418C>G	XP_016881276.1:p.Ser473Ter