Canonical Allele Identifier: CA401790761

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21113441A>G (hg19) ; chr18:g.23533477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533477A>G , CM000680.2:g.23533477A>G	GRCh38
NC_000018.9:g.21113441A>G , CM000680.1:g.21113441A>G	GRCh37
NC_000018.8:g.19367439A>G	NCBI36
NG_012795.1:g.58141T>C
NG_033119.1:g.35008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3632T>C MANE Select	ENSP00000269228.4:p.Val1211Ala
ENST00000269228.9:c.3632T>C	ENSP00000269228.4:p.Val1211Ala
ENST00000586150.5:c.387T>C
ENST00000587163.1:n.156T>C
ENST00000588867.1:n.1315T>C
ENST00000590723.5:c.41T>C	ENSP00000464755.1:p.Val14Ala
ENST00000591051.1:c.2710T>C
ENST00000591107.6:c.309T>C
NM_000271.4:c.3632T>C	NP_000262.2:p.Val1211Ala
XM_005258277.1:c.3683T>C	XP_005258334.1:p.Val1228Ala
XM_005258278.3:c.3683T>C	XP_005258335.1:p.Val1228Ala
XM_005258279.1:c.3632T>C	XP_005258336.1:p.Val1211Ala
XM_006722479.2:c.3683T>C	XP_006722542.1:p.Val1228Ala
XM_011526015.1:c.3218T>C	XP_011524317.1:p.Val1073Ala
XM_005258278.5:c.3683T>C	XP_005258335.1:p.Val1228Ala
XM_005258279.2:c.3632T>C	XP_005258336.1:p.Val1211Ala
XM_006722479.3:c.3683T>C	XP_006722542.1:p.Val1228Ala
XM_017025784.1:c.3683T>C	XP_016881273.1:p.Val1228Ala
XM_017025785.1:c.3683T>C	XP_016881274.1:p.Val1228Ala
XM_017025786.1:c.3632T>C	XP_016881275.1:p.Val1211Ala
XM_017025787.1:c.3632T>C	XP_016881276.1:p.Val1211Ala
NM_000271.5:c.3632T>C MANE Select	NP_000262.2:p.Val1211Ala