Canonical Allele Identifier: CA401790860

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534447G>A , CM000680.2:g.23534447G>A	GRCh38
NC_000018.9:g.21114411G>A , CM000680.1:g.21114411G>A	GRCh37
NC_000018.8:g.19368409G>A	NCBI36
NG_012795.1:g.57171C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3590C>T MANE Select	NP_000262.2:p.Ser1197Phe
ENST00000269228.10:c.3590C>T MANE Select	ENSP00000269228.4:p.Ser1197Phe
NM_000271.4:c.3590C>T	NP_000262.2:p.Ser1197Phe
ENST00000269228.9:c.3590C>T	ENSP00000269228.4:p.Ser1197Phe
ENST00000586150.5:c.345C>T
ENST00000587163.1:n.114C>T
ENST00000588867.1:n.345C>T
ENST00000591051.1:c.2668C>T
ENST00000591107.6:c.267C>T
XM_005258277.1:c.3641C>T	XP_005258334.1:p.Ser1214Phe
XM_005258278.3:c.3641C>T	XP_005258335.1:p.Ser1214Phe
XM_005258278.5:c.3641C>T	XP_005258335.1:p.Ser1214Phe
XM_005258279.1:c.3590C>T	XP_005258336.1:p.Ser1197Phe
XM_005258279.2:c.3590C>T	XP_005258336.1:p.Ser1197Phe
XM_006722479.2:c.3641C>T	XP_006722542.1:p.Ser1214Phe
XM_006722479.3:c.3641C>T	XP_006722542.1:p.Ser1214Phe
XM_011526015.1:c.3176C>T	XP_011524317.1:p.Ser1059Phe
XM_017025784.1:c.3641C>T	XP_016881273.1:p.Ser1214Phe
XM_017025785.1:c.3641C>T	XP_016881274.1:p.Ser1214Phe
XM_017025786.1:c.3590C>T	XP_016881275.1:p.Ser1197Phe
XM_017025787.1:c.3590C>T	XP_016881276.1:p.Ser1197Phe