Canonical Allele Identifier: CA304894700
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500603
ClinVar RCV Id: RCV000592611
dbSNP Id: rs373423915
gnomAD v3: 19-7525161-G-T
gnomAD v4: 19-7525161-G-T
MyVariant Identifiers: chr19:g.7590047G>T (hg19) chr19:g.7525161G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525161G>T , CM000681.2:g.7525161G>T GRCh38
NC_000019.9:g.7590047G>T , CM000681.1:g.7590047G>T GRCh37
NC_000019.8:g.7496047G>T NCBI36
NG_015806.1:g.7552G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.232G>T MANE Select ENSP00000264079.5:p.Val78Leu
ENST00000264079.10:c.232G>T ENSP00000264079.5:p.Val78Leu
ENST00000394321.9:n.312G>T
ENST00000596390.1:n.348G>T
ENST00000601003.1:c.232G>T ENSP00000469074.1:p.Val78Leu
NM_020533.2:c.232G>T NP_065394.1:p.Val78Leu
NM_020533.3:c.232G>T MANE Select NP_065394.1:p.Val78Leu
Search 100 bp 5'
Search 100 bp 3'