Canonical Allele Identifier: CA16041986
Gene: MCOLN1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7522782G>A
GRCh37 chr19:g.7587668G>A
gnomAD v2:
19:7587668 G / A
gnomAD v3:
19:7522782 G / A
gnomAD v4:
chr19-7522782-G-A
Joint Max Group AF 0.00002025 (AFR)
Genomes Max Group AF 0.00003249 (AFR)
ClinVar RCV:
RCV000410923
ClinVar Variation:
370118
dbSNP:
1057516246
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522782G>A , CM000681.2:g.7522782G>A GRCh38
NC_000019.9:g.7587668G>A , CM000681.1:g.7587668G>A GRCh37
NC_000019.8:g.7493668G>A NCBI36
NG_015806.1:g.5173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.31+1G>A MANE Select ENSP00000264079.5:n.31+1G>A
ENST00000264079.10:c.31+1G>A ENSP00000264079.5:n.31+1G>A
ENST00000394321.9:n.111+1G>A
ENST00000596390.1:n.147+1G>A
ENST00000601003.1:c.31+1G>A ENSP00000469074.1:n.31+1G>A
NM_020533.2:c.31+1G>A NP_065394.1:n.31+1G>A
XR_936293.1:n.926+60C>T
XR_936294.1:n.926+60C>T
XR_936295.1:n.570+60C>T
XR_936293.2:n.952+60C>T
XR_936294.2:n.952+60C>T
NM_020533.3:c.31+1G>A MANE Select NP_065394.1:n.31+1G>A
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