Canonical Allele Identifier: CA304854541
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1649257
ClinVar RCV Id: RCV002146295
dbSNP Id: rs915699870
gnomAD v4: 19-7529179-C-T
MyVariant Identifiers: chr19:g.7594065C>T (hg19) chr19:g.7529179C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529179C>T , CM000681.2:g.7529179C>T GRCh38
NC_000019.9:g.7594065C>T , CM000681.1:g.7594065C>T GRCh37
NC_000019.8:g.7500065C>T NCBI36
NG_013374.1:g.28C>T
NG_015806.1:g.11570C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1213C>T MANE Select ENSP00000264079.5:p.Leu405=
ENST00000264079.10:c.1213C>T ENSP00000264079.5:p.Leu405=
ENST00000394321.9:n.1528C>T
ENST00000594692.1:n.209C>T
ENST00000595860.5:n.396C>T
ENST00000599334.1:c.90C>T
NM_020533.2:c.1213C>T NP_065394.1:p.Leu405=
NM_020533.3:c.1213C>T MANE Select NP_065394.1:p.Leu405=
Search 100 bp 5'
Search 100 bp 3'