Canonical Allele Identifier: CA631462861
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2884109
ClinVar RCV Id: RCV003615123
dbSNP Id: rs1282192031
gnomAD v2: 19-7598550-C-CG
gnomAD v3: 19-7533664-C-CG
gnomAD v4: 19-7533664-C-CG
MyVariant Identifiers: chr19:g.7598550_7598551insG (hg19) chr19:g.7533664_7533665insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533667dup , CM000681.2:g.7533667dup GRCh38
NC_000019.9:g.7598553dup , CM000681.1:g.7598553dup GRCh37
NC_000019.8:g.7504553dup NCBI36
NG_013374.1:g.4516dup
NG_015806.1:g.16058dup

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+14dup MANE Select ENSP00000264079.5:n.1706+14dup
ENST00000264079.10:c.1706+14dup ENSP00000264079.5:n.1706+14dup
ENST00000394321.9:n.2021+14dup
ENST00000599334.1:c.434+14dup
ENST00000601870.1:c.59+14dup
ENST00000602227.1:n.260+14dup
NM_020533.2:c.1706+14dup NP_065394.1:n.1706+14dup
NM_020533.3:c.1706+14dup MANE Select NP_065394.1:n.1706+14dup
Search 100 bp 5'
Search 100 bp 3'