Canonical Allele Identifier: CA505232558
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3006825
ClinVar RCV Id: RCV003861440
dbSNP Id: rs2022638894
gnomAD v4: 19-7530391-C-T
MyVariant Identifiers: chr19:g.7595277C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530391C>T , CM000681.2:g.7530391C>T GRCh38
NC_000019.9:g.7595277C>T , CM000681.1:g.7595277C>T GRCh37
NC_000019.8:g.7501277C>T NCBI36
NG_013374.1:g.1240C>T
NG_015806.1:g.12782C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1465C>T MANE Select ENSP00000264079.5:p.Leu489=
ENST00000264079.10:c.1465C>T ENSP00000264079.5:p.Leu489=
ENST00000394321.9:n.1780C>T
ENST00000594692.1:n.461C>T
ENST00000595860.5:n.648C>T
ENST00000599334.1:c.237-44C>T
NM_020533.2:c.1465C>T NP_065394.1:p.Leu489=
NM_020533.3:c.1465C>T MANE Select NP_065394.1:p.Leu489=
Search 100 bp 5'
Search 100 bp 3'