Canonical Allele Identifier: CA2573155900
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1453483
ClinVar RCV Id: RCV001994819
dbSNP Id: rs2146022877
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526859del , CM000681.2:g.7526859del GRCh38
NC_000019.9:g.7591745del , CM000681.1:g.7591745del GRCh37
NC_000019.8:g.7497745del NCBI36
NG_015806.1:g.9250del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.504del MANE Select ENSP00000264079.5:p.Tyr169ThrfsTer?
ENST00000264079.10:c.504del ENSP00000264079.5:p.Tyr169ThrfsTer?
ENST00000394321.9:n.584del
ENST00000596008.1:n.466del
ENST00000598406.1:n.325del
ENST00000601003.1:c.504del ENSP00000469074.1:p.Tyr169ThrfsTer?
NM_020533.2:c.504del NP_065394.1:p.Tyr169ThrfsTer?
NM_020533.3:c.504del MANE Select NP_065394.1:p.Tyr169ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'