Canonical Allele Identifier: CA631317816
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1235610
ClinVar RCV Id: RCV001618151
dbSNP Id: rs1481104664
gnomAD v2: 19-7592157-C-A
gnomAD v3: 19-7527271-C-A
gnomAD v4: 19-7527271-C-A
MyVariant Identifiers: chr19:g.7592157C>A (hg19) chr19:g.7592157_7592159delinsAAA (hg19) chr19:g.7527271C>A (hg38) chr19:g.7527271_7527273delinsAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527271C>A , CM000681.2:g.7527271C>A GRCh38
NC_000019.9:g.7592157C>A , CM000681.1:g.7592157C>A GRCh37
NC_000019.8:g.7498157C>A NCBI36
NG_015806.1:g.9662C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-249C>A MANE Select ENSP00000264079.5:n.572-249C>A
ENST00000264079.10:c.572-249C>A ENSP00000264079.5:n.572-249C>A
ENST00000394321.9:n.652-249C>A
ENST00000598406.1:n.393-249C>A
ENST00000601003.1:c.571+345C>A ENSP00000469074.1:n.571+345C>A
NM_020533.2:c.572-249C>A NP_065394.1:n.572-249C>A
NM_020533.3:c.572-249C>A MANE Select NP_065394.1:n.572-249C>A
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