Canonical Allele Identifier: CA505230333
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1068939
ClinVar RCV Id: RCV001380641
dbSNP Id: rs1349755445
gnomAD v2: 19-7592422-TC-T
gnomAD v4: 19-7527536-TC-T
COSMIC: COSM1397561
MyVariant Identifiers: chr19:g.7592423del (hg19) chr19:g.7527537del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527542del , CM000681.2:g.7527542del GRCh38
NC_000019.9:g.7592428del , CM000681.1:g.7592428del GRCh37
NC_000019.8:g.7498428del NCBI36
NG_015806.1:g.9933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.594del MANE Select ENSP00000264079.5:p.Glu199SerfsTer?
ENST00000264079.10:c.594del ENSP00000264079.5:p.Glu199SerfsTer?
ENST00000394321.9:n.674del
ENST00000598406.1:n.415del
ENST00000601003.1:c.572-322del ENSP00000469074.1:n.572-322del
NM_020533.2:c.594del NP_065394.1:p.Glu199SerfsTer?
NM_020533.3:c.594del MANE Select NP_065394.1:p.Glu199SerfsTer?
Search 100 bp 5'
Search 100 bp 3'