Canonical Allele Identifier: CA631326217
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2781718
ClinVar RCV Id: RCV003614290
dbSNP Id: rs1323384246
gnomAD v2: 19-7590068-C-T
gnomAD v4: 19-7525182-C-T
MyVariant Identifiers: chr19:g.7590068C>T (hg19) chr19:g.7525182C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525182C>T , CM000681.2:g.7525182C>T GRCh38
NC_000019.9:g.7590068C>T , CM000681.1:g.7590068C>T GRCh37
NC_000019.8:g.7496068C>T NCBI36
NG_015806.1:g.7573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.237+16C>T MANE Select ENSP00000264079.5:n.237+16C>T
ENST00000264079.10:c.237+16C>T ENSP00000264079.5:n.237+16C>T
ENST00000394321.9:n.317+16C>T
ENST00000596390.1:n.369C>T
ENST00000601003.1:c.237+16C>T ENSP00000469074.1:n.237+16C>T
NM_020533.2:c.237+16C>T NP_065394.1:n.237+16C>T
NM_020533.3:c.237+16C>T MANE Select NP_065394.1:n.237+16C>T
Search 100 bp 5'
Search 100 bp 3'