Canonical Allele Identifier: CA2573155890
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1451357
ClinVar RCV Id: RCV002035280
dbSNP Id: rs2146021402
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525159del , CM000681.2:g.7525159del GRCh38
NC_000019.9:g.7590045del , CM000681.1:g.7590045del GRCh37
NC_000019.8:g.7496045del NCBI36
NG_015806.1:g.7550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.230del MANE Select ENSP00000264079.5:p.Thr77ArgfsTer15
ENST00000264079.10:c.230del ENSP00000264079.5:p.Thr77ArgfsTer15
ENST00000394321.9:n.310del
ENST00000596390.1:n.346del
ENST00000601003.1:c.230del ENSP00000469074.1:p.Thr77ArgfsTer15
NM_020533.2:c.230del NP_065394.1:p.Thr77ArgfsTer15
NM_020533.3:c.230del MANE Select NP_065394.1:p.Thr77ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'