Canonical Allele Identifier: CA993156527
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2828386
ClinVar RCV Id: RCV003613889
dbSNP Id: rs937821234
gnomAD v3: 19-7533507-C-T
gnomAD v4: 19-7533507-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533507C>T , CM000681.2:g.7533507C>T GRCh38
NC_000019.9:g.7598393C>T , CM000681.1:g.7598393C>T GRCh37
NC_000019.8:g.7504393C>T NCBI36
NG_013374.1:g.4356C>T
NG_015806.1:g.15898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-16C>T MANE Select ENSP00000264079.5:n.1576-16C>T
ENST00000264079.10:c.1576-16C>T ENSP00000264079.5:n.1576-16C>T
ENST00000394321.9:n.1891-16C>T
ENST00000599334.1:c.304-16C>T
ENST00000602227.1:n.114C>T
NM_020533.2:c.1576-16C>T NP_065394.1:n.1576-16C>T
NM_020533.3:c.1576-16C>T MANE Select NP_065394.1:n.1576-16C>T
Search 100 bp 5'
Search 100 bp 3'