Canonical Allele Identifier: CA297069405
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2001942
ClinVar RCV Id: RCV002815826
dbSNP Id: rs904005729

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23556301T>C , CM000680.2:g.23556301T>C GRCh38
NC_000018.9:g.21136265T>C , CM000680.1:g.21136265T>C GRCh37
NC_000018.8:g.19390263T>C NCBI36
NG_012795.1:g.35317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.1268A>G MANE Select ENSP00000269228.4:p.Tyr423Cys
ENST00000269228.9:c.1268A>G ENSP00000269228.4:p.Tyr423Cys
ENST00000540608.5:n.1182A>G
ENST00000591051.1:c.550A>G
NM_000271.4:c.1268A>G NP_000262.2:p.Tyr423Cys
XM_005258277.1:c.1319A>G XP_005258334.1:p.Tyr440Cys
XM_005258278.3:c.1319A>G XP_005258335.1:p.Tyr440Cys
XM_005258279.1:c.1268A>G XP_005258336.1:p.Tyr423Cys
XM_006722479.2:c.1319A>G XP_006722542.1:p.Tyr440Cys
XM_011526015.1:c.854A>G XP_011524317.1:p.Tyr285Cys
XM_005258278.5:c.1319A>G XP_005258335.1:p.Tyr440Cys
XM_005258279.2:c.1268A>G XP_005258336.1:p.Tyr423Cys
XM_006722479.3:c.1319A>G XP_006722542.1:p.Tyr440Cys
XM_017025784.1:c.1319A>G XP_016881273.1:p.Tyr440Cys
XM_017025785.1:c.1319A>G XP_016881274.1:p.Tyr440Cys
XM_017025786.1:c.1268A>G XP_016881275.1:p.Tyr423Cys
XM_017025787.1:c.1268A>G XP_016881276.1:p.Tyr423Cys
NM_000271.5:c.1268A>G MANE Select NP_000262.2:p.Tyr423Cys