Canonical Allele Identifier: CA304894416

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1021470139
• gnomAD v3: 19-7524661-ATAT-A
• gnomAD v4: 19-7524661-ATAT-A
• MyVariant Identifiers: chr19:g.7589548_7589550del (hg19) ; chr19:g.7524662_7524664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524666_7524668del , CM000681.2:g.7524666_7524668del	GRCh38
NC_000019.9:g.7589552_7589554del , CM000681.1:g.7589552_7589554del	GRCh37
NC_000019.8:g.7495552_7495554del	NCBI36
NG_015806.1:g.7057_7059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-295_32-293del MANE Select	ENSP00000264079.5:n.32-295_32-293del
ENST00000264079.10:c.32-295_32-293del	ENSP00000264079.5:n.32-295_32-293del
ENST00000394321.9:n.112-295_112-293del
ENST00000596390.1:n.148-295_148-293del
ENST00000601003.1:c.32-295_32-293del	ENSP00000469074.1:n.32-295_32-293del
NM_020533.2:c.32-295_32-293del	NP_065394.1:n.32-295_32-293del
XR_936293.1:n.291_293del
XR_936294.1:n.291_293del
XR_936295.1:n.154+137_154+139del
XR_936293.2:n.317_319del
XR_936294.2:n.317_319del
NM_020533.3:c.32-295_32-293del MANE Select	NP_065394.1:n.32-295_32-293del