Canonical Allele Identifier: CA9139189
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3014473
ClinVar RCV Id: RCV003876112
dbSNP Id: rs780062195
ExAC: 19:7598389 C / T
gnomAD v2: 19-7598389-C-T
gnomAD v4: 19-7533503-C-T
MyVariant Identifiers: chr19:g.7598389C>T (hg19) chr19:g.7598389_7598410delinsTTCCCGGCTTCTCTCCCCAGCA (hg19) chr19:g.7533503C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533503C>T , CM000681.2:g.7533503C>T GRCh38
NC_000019.9:g.7598389C>T , CM000681.1:g.7598389C>T GRCh37
NC_000019.8:g.7504389C>T NCBI36
NG_013374.1:g.4352C>T
NG_015806.1:g.15894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-20C>T MANE Select ENSP00000264079.5:n.1576-20C>T
ENST00000264079.10:c.1576-20C>T ENSP00000264079.5:n.1576-20C>T
ENST00000394321.9:n.1891-20C>T
ENST00000599334.1:c.304-20C>T
ENST00000602227.1:n.110C>T
NM_020533.2:c.1576-20C>T NP_065394.1:n.1576-20C>T
NM_020533.3:c.1576-20C>T MANE Select NP_065394.1:n.1576-20C>T
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