Canonical Allele Identifier: CA304853842
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 788347
ClinVar RCV Id: RCV000970770
dbSNP Id: rs1005655619
gnomAD v2: 19-7593079-C-T
gnomAD v4: 19-7528193-C-T
MyVariant Identifiers: chr19:g.7593079C>T (hg19) chr19:g.7528193C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528193C>T , CM000681.2:g.7528193C>T GRCh38
NC_000019.9:g.7593079C>T , CM000681.1:g.7593079C>T GRCh37
NC_000019.8:g.7499079C>T NCBI36
NG_015806.1:g.10584C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.813C>T MANE Select ENSP00000264079.5:p.Ile271=
ENST00000264079.10:c.813C>T ENSP00000264079.5:p.Ile271=
ENST00000394321.9:n.1128C>T
NM_020533.2:c.813C>T NP_065394.1:p.Ile271=
NM_020533.3:c.813C>T MANE Select NP_065394.1:p.Ile271=
Search 100 bp 5'
Search 100 bp 3'