Canonical Allele Identifier: CA505231429
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1147141
ClinVar RCV Id: RCV001486550
dbSNP Id: rs1230119281
gnomAD v2: 19-7593550-C-T
gnomAD v4: 19-7528664-C-T
MyVariant Identifiers: chr19:g.7593550C>T (hg19) chr19:g.7528664C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528664C>T , CM000681.2:g.7528664C>T GRCh38
NC_000019.9:g.7593550C>T , CM000681.1:g.7593550C>T GRCh37
NC_000019.8:g.7499550C>T NCBI36
NG_015806.1:g.11055C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.945C>T MANE Select ENSP00000264079.5:p.Leu315=
ENST00000264079.10:c.945C>T ENSP00000264079.5:p.Leu315=
ENST00000394321.9:n.1260C>T
ENST00000595860.5:n.11C>T
NM_020533.2:c.945C>T NP_065394.1:p.Leu315=
NM_020533.3:c.945C>T MANE Select NP_065394.1:p.Leu315=
Search 100 bp 5'
Search 100 bp 3'