Canonical Allele Identifier: CA9138926
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1660277
ClinVar RCV Id: RCV002183604
dbSNP Id: rs759571499
ExAC: 19:7593127 C / T
gnomAD v2: 19-7593127-C-T
gnomAD v4: 19-7528241-C-T
MyVariant Identifiers: chr19:g.7593127C>T (hg19) chr19:g.7528241C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528241C>T , CM000681.2:g.7528241C>T GRCh38
NC_000019.9:g.7593127C>T , CM000681.1:g.7593127C>T GRCh37
NC_000019.8:g.7499127C>T NCBI36
NG_015806.1:g.10632C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.861C>T MANE Select ENSP00000264079.5:p.Pro287=
ENST00000264079.10:c.861C>T ENSP00000264079.5:p.Pro287=
ENST00000394321.9:n.1176C>T
NM_020533.2:c.861C>T NP_065394.1:p.Pro287=
NM_020533.3:c.861C>T MANE Select NP_065394.1:p.Pro287=
Search 100 bp 5'
Search 100 bp 3'