Canonical Allele Identifier: CA10649267
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330498
ClinVar RCV Id: RCV000321826
dbSNP Id: rs886054695
gnomAD v3: 19-7528842-C-T
gnomAD v4: 19-7528842-C-T
COSMIC: COSM4082774
MyVariant Identifiers: chr19:g.7593728C>T (hg19) chr19:g.7528842C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528842C>T , CM000681.2:g.7528842C>T GRCh38
NC_000019.9:g.7593728C>T , CM000681.1:g.7593728C>T GRCh37
NC_000019.8:g.7499728C>T NCBI36
NG_015806.1:g.11233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1006C>T MANE Select ENSP00000264079.5:p.Arg336Trp
ENST00000264079.10:c.1006C>T ENSP00000264079.5:p.Arg336Trp
ENST00000394321.9:n.1321C>T
ENST00000595860.5:n.189C>T
NM_020533.2:c.1006C>T NP_065394.1:p.Arg336Trp
NM_020533.3:c.1006C>T MANE Select NP_065394.1:p.Arg336Trp
Search 100 bp 5'
Search 100 bp 3'