Canonical Allele Identifier: CA403081198
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526776-G-A
COSMIC: COSM4600336
MyVariant Identifiers: chr19:g.7591662G>A (hg19) chr19:g.7526776G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526776G>A , CM000681.2:g.7526776G>A GRCh38
NC_000019.9:g.7591662G>A , CM000681.1:g.7591662G>A GRCh37
NC_000019.8:g.7497662G>A NCBI36
NG_015806.1:g.9167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.421G>A MANE Select ENSP00000264079.5:p.Asp141Asn
ENST00000264079.10:c.421G>A ENSP00000264079.5:p.Asp141Asn
ENST00000394321.9:n.501G>A
ENST00000596008.1:n.383G>A
ENST00000598406.1:n.242G>A
ENST00000601003.1:c.421G>A ENSP00000469074.1:p.Asp141Asn
NM_020533.2:c.421G>A NP_065394.1:p.Asp141Asn
NM_020533.3:c.421G>A MANE Select NP_065394.1:p.Asp141Asn
Search 100 bp 5'
Search 100 bp 3'