Canonical Allele Identifier: CA505403732
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2701139
ClinVar RCV Id: RCV003505553
gnomAD v4: 19-7529181-G-C
MyVariant Identifiers: chr19:g.7594067G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529181G>C , CM000681.2:g.7529181G>C GRCh38
NC_000019.9:g.7594067G>C , CM000681.1:g.7594067G>C GRCh37
NC_000019.8:g.7500067G>C NCBI36
NG_013374.1:g.30G>C
NG_015806.1:g.11572G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1215G>C MANE Select ENSP00000264079.5:p.Leu405=
ENST00000264079.10:c.1215G>C ENSP00000264079.5:p.Leu405=
ENST00000394321.9:n.1530G>C
ENST00000594692.1:n.211G>C
ENST00000595860.5:n.398G>C
ENST00000599334.1:c.92G>C
NM_020533.2:c.1215G>C NP_065394.1:p.Leu405=
NM_020533.3:c.1215G>C MANE Select NP_065394.1:p.Leu405=
Search 100 bp 5'
Search 100 bp 3'