Canonical Allele Identifier: CA403080651
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1225468166
gnomAD v2: 19-7591326-T-G
gnomAD v4: 19-7526440-T-G
MyVariant Identifiers: chr19:g.7591326T>G (hg19) chr19:g.7526440T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526440T>G , CM000681.2:g.7526440T>G GRCh38
NC_000019.9:g.7591326T>G , CM000681.1:g.7591326T>G GRCh37
NC_000019.8:g.7497326T>G NCBI36
NG_015806.1:g.8831T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.239T>G MANE Select ENSP00000264079.5:p.Leu80Arg
ENST00000264079.10:c.239T>G ENSP00000264079.5:p.Leu80Arg
ENST00000394321.9:n.319T>G
ENST00000596008.1:n.201T>G
ENST00000598406.1:n.60T>G
ENST00000601003.1:c.239T>G ENSP00000469074.1:p.Leu80Arg
NM_020533.2:c.239T>G NP_065394.1:p.Leu80Arg
NM_020533.3:c.239T>G MANE Select NP_065394.1:p.Leu80Arg
Search 100 bp 5'
Search 100 bp 3'