Canonical Allele Identifier: CA403152944
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2071466
ClinVar RCV Id: RCV002975602

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525125C>G , CM000681.2:g.7525125C>G GRCh38
NC_000019.9:g.7590011C>G , CM000681.1:g.7590011C>G GRCh37
NC_000019.8:g.7496011C>G NCBI36
NG_015806.1:g.7516C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.196C>G MANE Select ENSP00000264079.5:p.Leu66Val
ENST00000264079.10:c.196C>G ENSP00000264079.5:p.Leu66Val
ENST00000394321.9:n.276C>G
ENST00000596390.1:n.312C>G
ENST00000601003.1:c.196C>G ENSP00000469074.1:p.Leu66Val
NM_020533.2:c.196C>G NP_065394.1:p.Leu66Val
NM_020533.3:c.196C>G MANE Select NP_065394.1:p.Leu66Val