Canonical Allele Identifier: CA401791055

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534538A>C , CM000680.2:g.23534538A>C	GRCh38
NC_000018.9:g.21114502A>C , CM000680.1:g.21114502A>C	GRCh37
NC_000018.8:g.19368500A>C	NCBI36
NG_012795.1:g.57080T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3499T>G MANE Select	NP_000262.2:p.Phe1167Val
ENST00000269228.10:c.3499T>G MANE Select	ENSP00000269228.4:p.Phe1167Val
NM_000271.4:c.3499T>G	NP_000262.2:p.Phe1167Val
ENST00000269228.9:c.3499T>G	ENSP00000269228.4:p.Phe1167Val
ENST00000586150.5:c.254T>G
ENST00000587163.1:n.23T>G
ENST00000588867.1:n.254T>G
ENST00000591051.1:c.2577T>G
ENST00000591107.6:c.176T>G
XM_005258277.1:c.3550T>G	XP_005258334.1:p.Phe1184Val
XM_005258278.3:c.3550T>G	XP_005258335.1:p.Phe1184Val
XM_005258278.5:c.3550T>G	XP_005258335.1:p.Phe1184Val
XM_005258279.1:c.3499T>G	XP_005258336.1:p.Phe1167Val
XM_005258279.2:c.3499T>G	XP_005258336.1:p.Phe1167Val
XM_006722479.2:c.3550T>G	XP_006722542.1:p.Phe1184Val
XM_006722479.3:c.3550T>G	XP_006722542.1:p.Phe1184Val
XM_011526015.1:c.3085T>G	XP_011524317.1:p.Phe1029Val
XM_017025784.1:c.3550T>G	XP_016881273.1:p.Phe1184Val
XM_017025785.1:c.3550T>G	XP_016881274.1:p.Phe1184Val
XM_017025786.1:c.3499T>G	XP_016881275.1:p.Phe1167Val
XM_017025787.1:c.3499T>G	XP_016881276.1:p.Phe1167Val