Canonical Allele Identifier: CA884200671
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1468163582
gnomAD v3: 19-7527269-CT-C
gnomAD v4: 19-7527269-CT-C
MyVariant Identifiers: chr19:g.7592156del (hg19) chr19:g.7527270del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527270del , CM000681.2:g.7527270del GRCh38
NC_000019.9:g.7592156del , CM000681.1:g.7592156del GRCh37
NC_000019.8:g.7498156del NCBI36
NG_015806.1:g.9661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-250del MANE Select ENSP00000264079.5:n.572-250del
ENST00000264079.10:c.572-250del ENSP00000264079.5:n.572-250del
ENST00000394321.9:n.652-250del
ENST00000598406.1:n.393-250del
ENST00000601003.1:c.571+344del ENSP00000469074.1:n.571+344del
NM_020533.2:c.572-250del NP_065394.1:n.572-250del
NM_020533.3:c.572-250del MANE Select NP_065394.1:n.572-250del
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Search 100 bp 3'