Canonical Allele Identifier: CA913046758

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1377765
• ClinVar RCV Id: RCV001880821
• dbSNP Id: rs2146022798
• MyVariant Identifiers: chr19:g.7591659del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526774del , CM000681.2:g.7526774del	GRCh38
NC_000019.9:g.7591660del , CM000681.1:g.7591660del	GRCh37
NC_000019.8:g.7497660del	NCBI36
NG_015806.1:g.9165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.419del MANE Select	ENSP00000264079.5:p.Pro140LeufsTer?
ENST00000264079.10:c.419del	ENSP00000264079.5:p.Pro140LeufsTer?
ENST00000394321.9:n.499del
ENST00000596008.1:n.381del
ENST00000598406.1:n.240del
ENST00000601003.1:c.419del	ENSP00000469074.1:p.Pro140LeufsTer?
NM_020533.2:c.419del	NP_065394.1:p.Pro140LeufsTer?
NM_020533.3:c.419del MANE Select	NP_065394.1:p.Pro140LeufsTer?