Canonical Allele Identifier: CA403083823

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592768C>G (hg19) ; chr19:g.7527882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527882C>G , CM000681.2:g.7527882C>G	GRCh38
NC_000019.9:g.7592768C>G , CM000681.1:g.7592768C>G	GRCh37
NC_000019.8:g.7498768C>G	NCBI36
NG_015806.1:g.10273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.699C>G MANE Select	ENSP00000264079.5:p.Ile233Met
ENST00000264079.10:c.699C>G	ENSP00000264079.5:p.Ile233Met
ENST00000394321.9:n.1014C>G
ENST00000601003.1:c.590C>G	ENSP00000469074.1:p.Ser197Cys
NM_020533.2:c.699C>G	NP_065394.1:p.Ile233Met
NM_020533.3:c.699C>G MANE Select	NP_065394.1:p.Ile233Met