Canonical Allele Identifier: CA2320961127

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524975C= , CM000681.2:g.7524975C=	GRCh38
NC_000019.9:g.7589861C= , CM000681.1:g.7589861C=	GRCh37
NC_000019.8:g.7495861C=	NCBI36
NG_015806.1:g.7366C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.46C= MANE Select	ENSP00000264079.5:p.Leu16=
ENST00000264079.10:c.46C=	ENSP00000264079.5:p.Leu16=
ENST00000394321.9:n.126C=
ENST00000596390.1:n.162C=
ENST00000601003.1:c.46C=	ENSP00000469074.1:p.Leu16=
NM_020533.2:c.46C=	NP_065394.1:p.Leu16=
XR_936293.2:n.6G=
XR_936294.2:n.6G=
NM_020533.3:c.46C= MANE Select	NP_065394.1:p.Leu16=