Canonical Allele Identifier: CA505232243

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7590017C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525131C>T , CM000681.2:g.7525131C>T	GRCh38
NC_000019.9:g.7590017C>T , CM000681.1:g.7590017C>T	GRCh37
NC_000019.8:g.7496017C>T	NCBI36
NG_015806.1:g.7522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.202C>T MANE Select	ENSP00000264079.5:p.Leu68=
ENST00000264079.10:c.202C>T	ENSP00000264079.5:p.Leu68=
ENST00000394321.9:n.282C>T
ENST00000596390.1:n.318C>T
ENST00000601003.1:c.202C>T	ENSP00000469074.1:p.Leu68=
NM_020533.2:c.202C>T	NP_065394.1:p.Leu68=
NM_020533.3:c.202C>T MANE Select	NP_065394.1:p.Leu68=