Canonical Allele Identifier: CA403081992
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1224258189
gnomAD v4: 19-7527538-C-T
COSMIC: COSM224553
MyVariant Identifiers: chr19:g.7592424C>T (hg19) chr19:g.7527538C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527538C>T , CM000681.2:g.7527538C>T GRCh38
NC_000019.9:g.7592424C>T , CM000681.1:g.7592424C>T GRCh37
NC_000019.8:g.7498424C>T NCBI36
NG_015806.1:g.9929C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.590C>T MANE Select ENSP00000264079.5:p.Pro197Leu
ENST00000264079.10:c.590C>T ENSP00000264079.5:p.Pro197Leu
ENST00000394321.9:n.670C>T
ENST00000598406.1:n.411C>T
ENST00000601003.1:c.572-326C>T ENSP00000469074.1:n.572-326C>T
NM_020533.2:c.590C>T NP_065394.1:p.Pro197Leu
NM_020533.3:c.590C>T MANE Select NP_065394.1:p.Pro197Leu
Search 100 bp 5'
Search 100 bp 3'