Canonical Allele Identifier: CA304852912
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1155013
ClinVar RCV Id: RCV003161000
dbSNP Id: rs896210352
gnomAD v2: 19-7591748-C-T
gnomAD v3: 19-7526862-C-T
gnomAD v4: 19-7526862-C-T
MyVariant Identifiers: chr19:g.7591748C>T (hg19) chr19:g.7526862C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526862C>T , CM000681.2:g.7526862C>T GRCh38
NC_000019.9:g.7591748C>T , CM000681.1:g.7591748C>T GRCh37
NC_000019.8:g.7497748C>T NCBI36
NG_015806.1:g.9253C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.507C>T MANE Select ENSP00000264079.5:p.Tyr169=
ENST00000264079.10:c.507C>T ENSP00000264079.5:p.Tyr169=
ENST00000394321.9:n.587C>T
ENST00000596008.1:n.469C>T
ENST00000598406.1:n.328C>T
ENST00000601003.1:c.507C>T ENSP00000469074.1:p.Tyr169=
NM_020533.2:c.507C>T NP_065394.1:p.Tyr169=
NM_020533.3:c.507C>T MANE Select NP_065394.1:p.Tyr169=
Search 100 bp 5'
Search 100 bp 3'