Canonical Allele Identifier: CA9138893
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550093
ClinVar RCV Id: RCV000664726
dbSNP Id: rs563339019
ExAC: 19:7592852 G / GC
gnomAD v2: 19-7592852-G-GC
gnomAD v3: 19-7527966-G-GC
gnomAD v4: 19-7527966-G-GC
MyVariant Identifiers: chr19:g.7592853_7592854insC (hg19) chr19:g.7592852_7592853insC (hg19) chr19:g.7527972dup (hg38) chr19:g.7527967_7527968insC (hg38) chr19:g.7527966_7527967insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527972dup , CM000681.2:g.7527972dup GRCh38
NC_000019.9:g.7592858dup , CM000681.1:g.7592858dup GRCh37
NC_000019.8:g.7498858dup NCBI36
NG_015806.1:g.10363dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+12dup MANE Select ENSP00000264079.5:n.777+12dup
ENST00000264079.10:c.777+12dup ENSP00000264079.5:n.777+12dup
ENST00000394321.9:n.1092+12dup
NM_020533.2:c.777+12dup NP_065394.1:n.777+12dup
NM_020533.3:c.777+12dup MANE Select NP_065394.1:n.777+12dup
Search 100 bp 5'
Search 100 bp 3'