Canonical Allele Identifier: CA401792323

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21118623G>A (hg19) ; chr18:g.23538659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538659G>A , CM000680.2:g.23538659G>A	GRCh38
NC_000018.9:g.21118623G>A , CM000680.1:g.21118623G>A	GRCh37
NC_000018.8:g.19372621G>A	NCBI36
NG_012795.1:g.52959C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2924C>T MANE Select	ENSP00000269228.4:p.Ala975Val
ENST00000269228.9:c.2924C>T	ENSP00000269228.4:p.Ala975Val
ENST00000591051.1:c.2002C>T
ENST00000591075.1:n.557C>T
ENST00000591955.1:n.267C>T
NM_000271.4:c.2924C>T	NP_000262.2:p.Ala975Val
XM_005258277.1:c.2975C>T	XP_005258334.1:p.Ala992Val
XM_005258278.3:c.2975C>T	XP_005258335.1:p.Ala992Val
XM_005258279.1:c.2924C>T	XP_005258336.1:p.Ala975Val
XM_006722479.2:c.2975C>T	XP_006722542.1:p.Ala992Val
XM_011526015.1:c.2510C>T	XP_011524317.1:p.Ala837Val
XM_005258278.5:c.2975C>T	XP_005258335.1:p.Ala992Val
XM_005258279.2:c.2924C>T	XP_005258336.1:p.Ala975Val
XM_006722479.3:c.2975C>T	XP_006722542.1:p.Ala992Val
XM_017025784.1:c.2975C>T	XP_016881273.1:p.Ala992Val
XM_017025785.1:c.2975C>T	XP_016881274.1:p.Ala992Val
XM_017025786.1:c.2924C>T	XP_016881275.1:p.Ala975Val
XM_017025787.1:c.2924C>T	XP_016881276.1:p.Ala975Val
NM_000271.5:c.2924C>T MANE Select	NP_000262.2:p.Ala975Val