Canonical Allele Identifier: CA9139148
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1139008
ClinVar RCV Id: RCV001475567
dbSNP Id: rs376391975
ExAC: 19:7595204 G / A
gnomAD v2: 19-7595204-G-A
gnomAD v3: 19-7530318-G-A
gnomAD v4: 19-7530318-G-A
MyVariant Identifiers: chr19:g.7595204G>A (hg19) chr19:g.7530318G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530318G>A , CM000681.2:g.7530318G>A GRCh38
NC_000019.9:g.7595204G>A , CM000681.1:g.7595204G>A GRCh37
NC_000019.8:g.7501204G>A NCBI36
NG_013374.1:g.1167G>A
NG_015806.1:g.12709G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1392G>A MANE Select ENSP00000264079.5:p.Leu464=
ENST00000264079.10:c.1392G>A ENSP00000264079.5:p.Leu464=
ENST00000394321.9:n.1707G>A
ENST00000594692.1:n.388G>A
ENST00000595860.5:n.575G>A
ENST00000599334.1:c.237-117G>A
NM_020533.2:c.1392G>A NP_065394.1:p.Leu464=
NM_020533.3:c.1392G>A MANE Select NP_065394.1:p.Leu464=
Search 100 bp 5'
Search 100 bp 3'