Canonical Allele Identifier: CA340342
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5133
dbSNP Id: rs121908371
gnomAD v3: 19-7528683-C-T
gnomAD v4: 19-7528683-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528683C>T , CM000681.2:g.7528683C>T GRCh38
NC_000019.9:g.7593569C>T , CM000681.1:g.7593569C>T GRCh37
NC_000019.8:g.7499569C>T NCBI36
NG_015806.1:g.11074C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.964C>T MANE Select ENSP00000264079.5:p.Arg322Ter
ENST00000264079.10:c.964C>T ENSP00000264079.5:p.Arg322Ter
ENST00000394321.9:n.1279C>T
ENST00000595860.5:n.30C>T
NM_020533.2:c.964C>T NP_065394.1:p.Arg322Ter
NM_020533.3:c.964C>T MANE Select NP_065394.1:p.Arg322Ter