Canonical Allele Identifier: CA16041921
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370135
ClinVar RCV Id: RCV000411046
dbSNP Id: rs1057516260
MyVariant Identifiers: chr18:g.21141326del (hg19) chr18:g.23561362del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23561362del , CM000680.2:g.23561362del GRCh38
NC_000018.9:g.21141326del , CM000680.1:g.21141326del GRCh37
NC_000018.8:g.19395324del NCBI36
NG_012795.1:g.30256del

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.629del MANE Select ENSP00000269228.4:p.Ser210Ter
ENST00000269228.9:c.629del ENSP00000269228.4:p.Ser210Ter
ENST00000540608.5:n.543del
NM_000271.4:c.629del NP_000262.2:p.Ser210Ter
XM_005258277.1:c.629del XP_005258334.1:p.Ser210Ter
XM_005258278.3:c.629del XP_005258335.1:p.Ser210Ter
XM_005258279.1:c.629del XP_005258336.1:p.Ser210Ter
XM_006722479.2:c.629del XP_006722542.1:p.Ser210Ter
XM_011526015.1:c.164del XP_011524317.1:p.Ser55Ter
XM_005258278.5:c.629del XP_005258335.1:p.Ser210Ter
XM_005258279.2:c.629del XP_005258336.1:p.Ser210Ter
XM_006722479.3:c.629del XP_006722542.1:p.Ser210Ter
XM_017025784.1:c.629del XP_016881273.1:p.Ser210Ter
XM_017025785.1:c.629del XP_016881274.1:p.Ser210Ter
XM_017025786.1:c.629del XP_016881275.1:p.Ser210Ter
XM_017025787.1:c.629del XP_016881276.1:p.Ser210Ter
NM_000271.5:c.629del MANE Select NP_000262.2:p.Ser210Ter
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