Canonical Allele Identifier: CA304853039
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs936388136
gnomAD v3: 19-7527122-A-AT
gnomAD v4: 19-7527122-A-AT
MyVariant Identifiers: chr19:g.7592008_7592009insT (hg19) chr19:g.7527122_7527123insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527124dup , CM000681.2:g.7527124dup GRCh38
NC_000019.9:g.7592010dup , CM000681.1:g.7592010dup GRCh37
NC_000019.8:g.7498010dup NCBI36
NG_015806.1:g.9515dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+198dup MANE Select ENSP00000264079.5:n.571+198dup
ENST00000264079.10:c.571+198dup ENSP00000264079.5:n.571+198dup
ENST00000394321.9:n.651+198dup
ENST00000596008.1:n.731dup
ENST00000598406.1:n.392+198dup
ENST00000601003.1:c.571+198dup ENSP00000469074.1:n.571+198dup
NM_020533.2:c.571+198dup NP_065394.1:n.571+198dup
NM_020533.3:c.571+198dup MANE Select NP_065394.1:n.571+198dup
Search 100 bp 5'
Search 100 bp 3'