Canonical Allele Identifier: CA401772178
Gene: NPC1 HGNC NCBI

Linked Data

dbSNP Id: rs1788799
gnomAD v4: 18-23544981-C-T
MyVariant Identifiers: chr18:g.21124945C>T (hg19) chr18:g.23544981C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23544981C>T , CM000680.2:g.23544981C>T GRCh38
NC_000018.9:g.21124945C>T , CM000680.1:g.21124945C>T GRCh37
NC_000018.8:g.19378943C>T NCBI36
NG_012795.1:g.46637G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.1926G>A MANE Select ENSP00000269228.4:p.Met642Ile
ENST00000269228.9:c.1926G>A ENSP00000269228.4:p.Met642Ile
ENST00000540608.5:n.1840G>A
ENST00000591051.1:c.1004G>A
NM_000271.4:c.1926G>A NP_000262.2:p.Met642Ile
XM_005258277.1:c.1977G>A XP_005258334.1:p.Met659Ile
XM_005258278.3:c.1977G>A XP_005258335.1:p.Met659Ile
XM_005258279.1:c.1926G>A XP_005258336.1:p.Met642Ile
XM_006722479.2:c.1977G>A XP_006722542.1:p.Met659Ile
XM_011526015.1:c.1512G>A XP_011524317.1:p.Met504Ile
XM_005258278.5:c.1977G>A XP_005258335.1:p.Met659Ile
XM_005258279.2:c.1926G>A XP_005258336.1:p.Met642Ile
XM_006722479.3:c.1977G>A XP_006722542.1:p.Met659Ile
XM_017025784.1:c.1977G>A XP_016881273.1:p.Met659Ile
XM_017025785.1:c.1977G>A XP_016881274.1:p.Met659Ile
XM_017025786.1:c.1926G>A XP_016881275.1:p.Met642Ile
XM_017025787.1:c.1926G>A XP_016881276.1:p.Met642Ile
NM_000271.5:c.1926G>A MANE Select NP_000262.2:p.Met642Ile
Search 100 bp 5'
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