Canonical Allele Identifier: CA657057400
Gene: MCOLN1 HGNC NCBI

Linked Data

COSMIC: COSN21335516
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533740C>A , CM000681.2:g.7533740C>A GRCh38
NC_000019.9:g.7598626C>A , CM000681.1:g.7598626C>A GRCh37
NC_000019.8:g.7504626C>A NCBI36
NG_013374.1:g.4589C>A
NG_015806.1:g.16131C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1707-19C>A MANE Select ENSP00000264079.5:n.1707-19C>A
ENST00000264079.10:c.1707-19C>A ENSP00000264079.5:n.1707-19C>A
ENST00000394321.9:n.2022-19C>A
ENST00000599334.1:c.435-19C>A
ENST00000601870.1:c.60-19C>A
ENST00000602227.1:n.261-19C>A
NM_020533.2:c.1707-19C>A NP_065394.1:n.1707-19C>A
NM_020533.3:c.1707-19C>A MANE Select NP_065394.1:n.1707-19C>A
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