Canonical Allele Identifier: CA220563
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2972
dbSNP Id: rs28942107

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23536814G>A , CM000680.2:g.23536814G>A GRCh38
NC_000018.9:g.21116778G>A , CM000680.1:g.21116778G>A GRCh37
NC_000018.8:g.19370776G>A NCBI36
NG_012795.1:g.54804C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.3104C>T MANE Select ENSP00000269228.4:p.Ala1035Val
ENST00000269228.9:c.3104C>T ENSP00000269228.4:p.Ala1035Val
ENST00000591051.1:c.2182C>T
ENST00000591075.1:n.737C>T
ENST00000591955.1:n.447C>T
NM_000271.4:c.3104C>T NP_000262.2:p.Ala1035Val
XM_005258277.1:c.3155C>T XP_005258334.1:p.Ala1052Val
XM_005258278.3:c.3155C>T XP_005258335.1:p.Ala1052Val
XM_005258279.1:c.3104C>T XP_005258336.1:p.Ala1035Val
XM_006722479.2:c.3155C>T XP_006722542.1:p.Ala1052Val
XM_011526015.1:c.2690C>T XP_011524317.1:p.Ala897Val
XM_005258278.5:c.3155C>T XP_005258335.1:p.Ala1052Val
XM_005258279.2:c.3104C>T XP_005258336.1:p.Ala1035Val
XM_006722479.3:c.3155C>T XP_006722542.1:p.Ala1052Val
XM_017025784.1:c.3155C>T XP_016881273.1:p.Ala1052Val
XM_017025785.1:c.3155C>T XP_016881274.1:p.Ala1052Val
XM_017025786.1:c.3104C>T XP_016881275.1:p.Ala1035Val
XM_017025787.1:c.3104C>T XP_016881276.1:p.Ala1035Val
NM_000271.5:c.3104C>T MANE Select NP_000262.2:p.Ala1035Val