Canonical Allele Identifier: CA9138632
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072635
ClinVar RCV Id: RCV001385399
dbSNP Id: rs765577483
ExAC: 19:7589984 C / T
gnomAD v2: 19-7589984-C-T
gnomAD v4: 19-7525098-C-T
COSMIC: COSM1711699
MyVariant Identifiers: chr19:g.7589984C>T (hg19) chr19:g.7525098C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525098C>T , CM000681.2:g.7525098C>T GRCh38
NC_000019.9:g.7589984C>T , CM000681.1:g.7589984C>T GRCh37
NC_000019.8:g.7495984C>T NCBI36
NG_015806.1:g.7489C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.169C>T MANE Select ENSP00000264079.5:p.Arg57Ter
ENST00000264079.10:c.169C>T ENSP00000264079.5:p.Arg57Ter
ENST00000394321.9:n.249C>T
ENST00000596390.1:n.285C>T
ENST00000601003.1:c.169C>T ENSP00000469074.1:p.Arg57Ter
NM_020533.2:c.169C>T NP_065394.1:p.Arg57Ter
NM_020533.3:c.169C>T MANE Select NP_065394.1:p.Arg57Ter
Search 100 bp 5'
Search 100 bp 3'