Canonical Allele Identifier: CA9138736
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2230830
ClinVar RCV Id: RCV002703020
dbSNP Id: rs372281787
gnomAD v2: 19-7591665-G-A
gnomAD v3: 19-7526779-G-A
gnomAD v4: 19-7526779-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526779G>A , CM000681.2:g.7526779G>A GRCh38
NC_000019.9:g.7591665G>A , CM000681.1:g.7591665G>A GRCh37
NC_000019.8:g.7497665G>A NCBI36
NG_015806.1:g.9170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.424G>A MANE Select ENSP00000264079.5:p.Val142Met
ENST00000264079.10:c.424G>A ENSP00000264079.5:p.Val142Met
ENST00000394321.9:n.504G>A
ENST00000596008.1:n.386G>A
ENST00000598406.1:n.245G>A
ENST00000601003.1:c.424G>A ENSP00000469074.1:p.Val142Met
NM_020533.2:c.424G>A NP_065394.1:p.Val142Met
NM_020533.3:c.424G>A MANE Select NP_065394.1:p.Val142Met