Canonical Allele Identifier: CA403084254

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592825C>G (hg19) ; chr19:g.7527939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527939C>G , CM000681.2:g.7527939C>G	GRCh38
NC_000019.9:g.7592825C>G , CM000681.1:g.7592825C>G	GRCh37
NC_000019.8:g.7498825C>G	NCBI36
NG_015806.1:g.10330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.756C>G MANE Select	ENSP00000264079.5:p.Asp252Glu
ENST00000264079.10:c.756C>G	ENSP00000264079.5:p.Asp252Glu
ENST00000394321.9:n.1071C>G
NM_020533.2:c.756C>G	NP_065394.1:p.Asp252Glu
NM_020533.3:c.756C>G MANE Select	NP_065394.1:p.Asp252Glu