Canonical Allele Identifier: CA2739276379

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 2847459
• ClinVar RCV Id: RCV003614668

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524947T>G , CM000681.2:g.7524947T>G	GRCh38
NC_000019.9:g.7589833T>G , CM000681.1:g.7589833T>G	GRCh37
NC_000019.8:g.7495833T>G	NCBI36
NG_015806.1:g.7338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-14T>G MANE Select	ENSP00000264079.5:n.32-14T>G
ENST00000264079.10:c.32-14T>G	ENSP00000264079.5:n.32-14T>G
ENST00000394321.9:n.112-14T>G
ENST00000596390.1:n.148-14T>G
ENST00000601003.1:c.32-14T>G	ENSP00000469074.1:n.32-14T>G
NM_020533.2:c.32-14T>G	NP_065394.1:n.32-14T>G
XR_936293.1:n.8A>C
XR_936294.1:n.8A>C
XR_936295.1:n.8A>C
XR_936293.2:n.34A>C
XR_936294.2:n.34A>C
NM_020533.3:c.32-14T>G MANE Select	NP_065394.1:n.32-14T>G