Canonical Allele Identifier: CA2580097138

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1725347
• ClinVar RCV Id: RCV002309031

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529196delinsTCAGG , CM000681.2:g.7529196delinsTCAGG	GRCh38
NC_000019.9:g.7594082delinsTCAGG , CM000681.1:g.7594082delinsTCAGG	GRCh37
NC_000019.8:g.7500082delinsTCAGG	NCBI36
NG_013374.1:g.45delinsTCAGG
NG_015806.1:g.11587delinsTCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1230delinsTCAGG MANE Select	ENSP00000264079.5:p.Tyr411GlnfsTer?
ENST00000264079.10:c.1230delinsTCAGG	ENSP00000264079.5:p.Tyr411GlnfsTer?
ENST00000394321.9:n.1545delinsTCAGG
ENST00000594692.1:n.226delinsTCAGG
ENST00000595860.5:n.413delinsTCAGG
ENST00000599334.1:c.107delinsTCAGG
NM_020533.2:c.1230delinsTCAGG	NP_065394.1:p.Tyr411GlnfsTer?
NM_020533.3:c.1230delinsTCAGG MANE Select	NP_065394.1:p.Tyr411GlnfsTer?