Canonical Allele Identifier: CA403084742
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200282
ClinVar RCV Id: RCV002654679
gnomAD v4: 19-7528212-C-T
MyVariant Identifiers: chr19:g.7593098C>T (hg19) chr19:g.7528212C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528212C>T , CM000681.2:g.7528212C>T GRCh38
NC_000019.9:g.7593098C>T , CM000681.1:g.7593098C>T GRCh37
NC_000019.8:g.7499098C>T NCBI36
NG_015806.1:g.10603C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.832C>T MANE Select ENSP00000264079.5:p.Gln278Ter
ENST00000264079.10:c.832C>T ENSP00000264079.5:p.Gln278Ter
ENST00000394321.9:n.1147C>T
NM_020533.2:c.832C>T NP_065394.1:p.Gln278Ter
NM_020533.3:c.832C>T MANE Select NP_065394.1:p.Gln278Ter
Search 100 bp 5'
Search 100 bp 3'