Canonical Allele Identifier: CA16043539
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374167
ClinVar RCV Id: RCV000415070
dbSNP Id: rs1057518942
MyVariant Identifiers: chr18:g.21124388G>A (hg19) chr18:g.23544424G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23544424G>A , CM000680.2:g.23544424G>A GRCh38
NC_000018.9:g.21124388G>A , CM000680.1:g.21124388G>A GRCh37
NC_000018.8:g.19378386G>A NCBI36
NG_012795.1:g.47194C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.2050C>T MANE Select ENSP00000269228.4:p.Leu684Phe
ENST00000269228.9:c.2050C>T ENSP00000269228.4:p.Leu684Phe
ENST00000540608.5:n.1964C>T
ENST00000591051.1:c.1128C>T
NM_000271.4:c.2050C>T NP_000262.2:p.Leu684Phe
XM_005258277.1:c.2101C>T XP_005258334.1:p.Leu701Phe
XM_005258278.3:c.2101C>T XP_005258335.1:p.Leu701Phe
XM_005258279.1:c.2050C>T XP_005258336.1:p.Leu684Phe
XM_006722479.2:c.2101C>T XP_006722542.1:p.Leu701Phe
XM_011526015.1:c.1636C>T XP_011524317.1:p.Leu546Phe
XM_005258278.5:c.2101C>T XP_005258335.1:p.Leu701Phe
XM_005258279.2:c.2050C>T XP_005258336.1:p.Leu684Phe
XM_006722479.3:c.2101C>T XP_006722542.1:p.Leu701Phe
XM_017025784.1:c.2101C>T XP_016881273.1:p.Leu701Phe
XM_017025785.1:c.2101C>T XP_016881274.1:p.Leu701Phe
XM_017025786.1:c.2050C>T XP_016881275.1:p.Leu684Phe
XM_017025787.1:c.2050C>T XP_016881276.1:p.Leu684Phe
NM_000271.5:c.2050C>T MANE Select NP_000262.2:p.Leu684Phe
Search 100 bp 5'
Search 100 bp 3'