Canonical Allele Identifier: CA304854359
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1147403
ClinVar RCV Id: RCV001486904
dbSNP Id: rs929597481
gnomAD v2: 19-7593793-G-T
gnomAD v4: 19-7528907-G-T
MyVariant Identifiers: chr19:g.7593793G>T (hg19) chr19:g.7528907G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528907G>T , CM000681.2:g.7528907G>T GRCh38
NC_000019.9:g.7593793G>T , CM000681.1:g.7593793G>T GRCh37
NC_000019.8:g.7499793G>T NCBI36
NG_015806.1:g.11298G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1071G>T MANE Select ENSP00000264079.5:p.Leu357=
ENST00000264079.10:c.1071G>T ENSP00000264079.5:p.Leu357=
ENST00000394321.9:n.1386G>T
ENST00000595860.5:n.254G>T
NM_020533.2:c.1071G>T NP_065394.1:p.Leu357=
NM_020533.3:c.1071G>T MANE Select NP_065394.1:p.Leu357=
Search 100 bp 5'
Search 100 bp 3'