Canonical Allele Identifier: CA505226738
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2001782
ClinVar RCV Id: RCV002815705
MyVariant Identifiers: chr19:g.7591405G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526519G>C , CM000681.2:g.7526519G>C GRCh38
NC_000019.9:g.7591405G>C , CM000681.1:g.7591405G>C GRCh37
NC_000019.8:g.7497405G>C NCBI36
NG_015806.1:g.8910G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.318G>C MANE Select ENSP00000264079.5:p.Leu106=
ENST00000264079.10:c.318G>C ENSP00000264079.5:p.Leu106=
ENST00000394321.9:n.398G>C
ENST00000596008.1:n.280G>C
ENST00000598406.1:n.139G>C
ENST00000601003.1:c.318G>C ENSP00000469074.1:p.Leu106=
NM_020533.2:c.318G>C NP_065394.1:p.Leu106=
NM_020533.3:c.318G>C MANE Select NP_065394.1:p.Leu106=
Search 100 bp 5'
Search 100 bp 3'