Canonical Allele Identifier: CA403082519
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1724921
ClinVar RCV Id: RCV002307980
gnomAD v4: 19-7527627-A-T
MyVariant Identifiers: chr19:g.7592513A>T (hg19) chr19:g.7527627A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527627A>T , CM000681.2:g.7527627A>T GRCh38
NC_000019.9:g.7592513A>T , CM000681.1:g.7592513A>T GRCh37
NC_000019.8:g.7498513A>T NCBI36
NG_015806.1:g.10018A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.679A>T MANE Select ENSP00000264079.5:p.Lys227Ter
ENST00000264079.10:c.679A>T ENSP00000264079.5:p.Lys227Ter
ENST00000394321.9:n.759A>T
ENST00000598406.1:n.500A>T
ENST00000601003.1:c.572-237A>T ENSP00000469074.1:n.572-237A>T
NM_020533.2:c.679A>T NP_065394.1:p.Lys227Ter
NM_020533.3:c.679A>T MANE Select NP_065394.1:p.Lys227Ter
Search 100 bp 5'
Search 100 bp 3'