Canonical Allele Identifier: CA403086800
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1438946093
gnomAD v2: 19-7594030-C-T
gnomAD v4: 19-7529144-C-T
MyVariant Identifiers: chr19:g.7594030C>T (hg19) chr19:g.7529144C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529144C>T , CM000681.2:g.7529144C>T GRCh38
NC_000019.9:g.7594030C>T , CM000681.1:g.7594030C>T GRCh37
NC_000019.8:g.7500030C>T NCBI36
NG_015806.1:g.11535C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1178C>T MANE Select ENSP00000264079.5:p.Ser393Leu
ENST00000264079.10:c.1178C>T ENSP00000264079.5:p.Ser393Leu
ENST00000394321.9:n.1493C>T
ENST00000594692.1:n.174C>T
ENST00000595860.5:n.361C>T
ENST00000599334.1:c.55C>T
NM_020533.2:c.1178C>T NP_065394.1:p.Ser393Leu
NM_020533.3:c.1178C>T MANE Select NP_065394.1:p.Ser393Leu
Search 100 bp 5'
Search 100 bp 3'