Canonical Allele Identifier: CA269827
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132895
ClinVar RCV Id: RCV000119332
dbSNP Id: rs483352890
MyVariant Identifiers: chr18:g.21123487C>G (hg19) chr18:g.23543523C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23543523C>G , CM000680.2:g.23543523C>G GRCh38
NC_000018.9:g.21123487C>G , CM000680.1:g.21123487C>G GRCh37
NC_000018.8:g.19377485C>G NCBI36
NG_012795.1:g.48095G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.2177G>C MANE Select ENSP00000269228.4:p.Arg726Thr
ENST00000269228.9:c.2177G>C ENSP00000269228.4:p.Arg726Thr
ENST00000540608.5:n.2091G>C
ENST00000591051.1:c.1255G>C
NM_000271.4:c.2177G>C NP_000262.2:p.Arg726Thr
XM_005258277.1:c.2228G>C XP_005258334.1:p.Arg743Thr
XM_005258278.3:c.2228G>C XP_005258335.1:p.Arg743Thr
XM_005258279.1:c.2177G>C XP_005258336.1:p.Arg726Thr
XM_006722479.2:c.2228G>C XP_006722542.1:p.Arg743Thr
XM_011526015.1:c.1763G>C XP_011524317.1:p.Arg588Thr
XM_005258278.5:c.2228G>C XP_005258335.1:p.Arg743Thr
XM_005258279.2:c.2177G>C XP_005258336.1:p.Arg726Thr
XM_006722479.3:c.2228G>C XP_006722542.1:p.Arg743Thr
XM_017025784.1:c.2228G>C XP_016881273.1:p.Arg743Thr
XM_017025785.1:c.2228G>C XP_016881274.1:p.Arg743Thr
XM_017025786.1:c.2177G>C XP_016881275.1:p.Arg726Thr
XM_017025787.1:c.2177G>C XP_016881276.1:p.Arg726Thr
NM_000271.5:c.2177G>C MANE Select NP_000262.2:p.Arg726Thr
Search 100 bp 5'
Search 100 bp 3'