Canonical Allele Identifier: CA304857114
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590829
ClinVar RCV Id: RCV002103826
dbSNP Id: rs759755939
gnomAD v2: 19-7598471-C-T
gnomAD v4: 19-7533585-C-T
MyVariant Identifiers: chr19:g.7598471C>T (hg19) chr19:g.7533585C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533585C>T , CM000681.2:g.7533585C>T GRCh38
NC_000019.9:g.7598471C>T , CM000681.1:g.7598471C>T GRCh37
NC_000019.8:g.7504471C>T NCBI36
NG_013374.1:g.4434C>T
NG_015806.1:g.15976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1638C>T MANE Select ENSP00000264079.5:p.Asp546=
ENST00000264079.10:c.1638C>T ENSP00000264079.5:p.Asp546=
ENST00000394321.9:n.1953C>T
ENST00000599334.1:c.366C>T
ENST00000602227.1:n.192C>T
NM_020533.2:c.1638C>T NP_065394.1:p.Asp546=
NM_020533.3:c.1638C>T MANE Select NP_065394.1:p.Asp546=
Search 100 bp 5'
Search 100 bp 3'