Canonical Allele Identifier: CA9138747
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1209624
ClinVar RCV Id: RCV001578712
dbSNP Id: rs757301173
ExAC: 19:7591743 C / T
gnomAD v2: 19-7591743-C-T
gnomAD v3: 19-7526857-C-T
gnomAD v4: 19-7526857-C-T
MyVariant Identifiers: chr19:g.7591743C>T (hg19) chr19:g.7526857C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526857C>T , CM000681.2:g.7526857C>T GRCh38
NC_000019.9:g.7591743C>T , CM000681.1:g.7591743C>T GRCh37
NC_000019.8:g.7497743C>T NCBI36
NG_015806.1:g.9248C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.502C>T MANE Select ENSP00000264079.5:p.Arg168Trp
ENST00000264079.10:c.502C>T ENSP00000264079.5:p.Arg168Trp
ENST00000394321.9:n.582C>T
ENST00000596008.1:n.464C>T
ENST00000598406.1:n.323C>T
ENST00000601003.1:c.502C>T ENSP00000469074.1:p.Arg168Trp
NM_020533.2:c.502C>T NP_065394.1:p.Arg168Trp
NM_020533.3:c.502C>T MANE Select NP_065394.1:p.Arg168Trp
Search 100 bp 5'
Search 100 bp 3'