Canonical Allele Identifier: CA304854885

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1179670
• ClinVar RCV Id: RCV001536708
• dbSNP Id: rs10405628
• gnomAD v2: 19-7594784-A-G
• gnomAD v3: 19-7529898-A-G
• gnomAD v4: 19-7529898-A-G
• MyVariant Identifiers: chr19:g.7594784A>G (hg19) ; chr19:g.7529898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529898A>G , CM000681.2:g.7529898A>G	GRCh38
NC_000019.9:g.7594784A>G , CM000681.1:g.7594784A>G	GRCh37
NC_000019.8:g.7500784A>G	NCBI36
NG_013374.1:g.747A>G
NG_015806.1:g.12289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+186A>G MANE Select	ENSP00000264079.5:n.1359+186A>G
ENST00000264079.10:c.1359+186A>G	ENSP00000264079.5:n.1359+186A>G
ENST00000394321.9:n.1674+186A>G
ENST00000594692.1:n.355+186A>G
ENST00000595860.5:n.542+186A>G
ENST00000599334.1:c.236+186A>G
NM_020533.2:c.1359+186A>G	NP_065394.1:n.1359+186A>G
NM_020533.3:c.1359+186A>G MANE Select	NP_065394.1:n.1359+186A>G