Canonical Allele Identifier: CA403085413
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593545C>A (hg19) chr19:g.7528659C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528659C>A , CM000681.2:g.7528659C>A GRCh38
NC_000019.9:g.7593545C>A , CM000681.1:g.7593545C>A GRCh37
NC_000019.8:g.7499545C>A NCBI36
NG_015806.1:g.11050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.940C>A MANE Select ENSP00000264079.5:p.Leu314Ile
ENST00000264079.10:c.940C>A ENSP00000264079.5:p.Leu314Ile
ENST00000394321.9:n.1255C>A
ENST00000595860.5:n.6C>A
NM_020533.2:c.940C>A NP_065394.1:p.Leu314Ile
NM_020533.3:c.940C>A MANE Select NP_065394.1:p.Leu314Ile
Search 100 bp 5'
Search 100 bp 3'