Canonical Allele Identifier: CA505232315
Gene: MCOLN1 HGNC NCBI

Linked Data

COSMIC: COSM3541283
MyVariant Identifiers: chr19:g.7595183C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530297C>T , CM000681.2:g.7530297C>T GRCh38
NC_000019.9:g.7595183C>T , CM000681.1:g.7595183C>T GRCh37
NC_000019.8:g.7501183C>T NCBI36
NG_013374.1:g.1146C>T
NG_015806.1:g.12688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1371C>T MANE Select ENSP00000264079.5:p.Leu457=
ENST00000264079.10:c.1371C>T ENSP00000264079.5:p.Leu457=
ENST00000394321.9:n.1686C>T
ENST00000594692.1:n.367C>T
ENST00000595860.5:n.554C>T
ENST00000599334.1:c.237-138C>T
NM_020533.2:c.1371C>T NP_065394.1:p.Leu457=
NM_020533.3:c.1371C>T MANE Select NP_065394.1:p.Leu457=
Search 100 bp 5'
Search 100 bp 3'