Canonical Allele Identifier: CA2320961147

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525145G= , CM000681.2:g.7525145G=	GRCh38
NC_000019.9:g.7590031G= , CM000681.1:g.7590031G=	GRCh37
NC_000019.8:g.7496031G=	NCBI36
NG_015806.1:g.7536G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.216G= MANE Select	ENSP00000264079.5:p.Lys72=
ENST00000264079.10:c.216G=	ENSP00000264079.5:p.Lys72=
ENST00000394321.9:n.296G=
ENST00000596390.1:n.332G=
ENST00000601003.1:c.216G=	ENSP00000469074.1:p.Lys72=
NM_020533.2:c.216G=	NP_065394.1:p.Lys72=
NM_020533.3:c.216G= MANE Select	NP_065394.1:p.Lys72=