Canonical Allele Identifier: CA403087761
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163693
ClinVar RCV Id: RCV003092455
gnomAD v4: 19-7529647-G-A
MyVariant Identifiers: chr19:g.7594533G>A (hg19) chr19:g.7529647G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529647G>A , CM000681.2:g.7529647G>A GRCh38
NC_000019.9:g.7594533G>A , CM000681.1:g.7594533G>A GRCh37
NC_000019.8:g.7500533G>A NCBI36
NG_013374.1:g.496G>A
NG_015806.1:g.12038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1294G>A MANE Select ENSP00000264079.5:p.Val432Met
ENST00000264079.10:c.1294G>A ENSP00000264079.5:p.Val432Met
ENST00000394321.9:n.1609G>A
ENST00000594692.1:n.290G>A
ENST00000595860.5:n.477G>A
ENST00000599334.1:c.171G>A
NM_020533.2:c.1294G>A NP_065394.1:p.Val432Met
NM_020533.3:c.1294G>A MANE Select NP_065394.1:p.Val432Met
Search 100 bp 5'
Search 100 bp 3'