Canonical Allele Identifier: CA631326212
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1129891
ClinVar RCV Id: RCV001463222
dbSNP Id: rs1452359151
gnomAD v2: 19-7590060-C-CG
gnomAD v3: 19-7525174-C-CG
gnomAD v4: 19-7525174-C-CG
MyVariant Identifiers: chr19:g.7590060_7590061insG (hg19) chr19:g.7525174_7525175insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525174_7525175insG , CM000681.2:g.7525174_7525175insG GRCh38
NC_000019.9:g.7590060_7590061insG , CM000681.1:g.7590060_7590061insG GRCh37
NC_000019.8:g.7496060_7496061insG NCBI36
NG_015806.1:g.7565_7566insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.237+8_237+9insG MANE Select ENSP00000264079.5:n.237+8_237+9insG
ENST00000264079.10:c.237+8_237+9insG ENSP00000264079.5:n.237+8_237+9insG
ENST00000394321.9:n.317+8_317+9insG
ENST00000596390.1:n.361_362insG
ENST00000601003.1:c.237+8_237+9insG ENSP00000469074.1:n.237+8_237+9insG
NM_020533.2:c.237+8_237+9insG NP_065394.1:n.237+8_237+9insG
NM_020533.3:c.237+8_237+9insG MANE Select NP_065394.1:n.237+8_237+9insG
Search 100 bp 5'
Search 100 bp 3'