Canonical Allele Identifier: CA2320961151

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525157C= , CM000681.2:g.7525157C=	GRCh38
NC_000019.9:g.7590043C= , CM000681.1:g.7590043C=	GRCh37
NC_000019.8:g.7496043C=	NCBI36
NG_015806.1:g.7548C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.228C= MANE Select	ENSP00000264079.5:p.Val76=
ENST00000264079.10:c.228C=	ENSP00000264079.5:p.Val76=
ENST00000394321.9:n.308C=
ENST00000596390.1:n.344C=
ENST00000601003.1:c.228C=	ENSP00000469074.1:p.Val76=
NM_020533.2:c.228C=	NP_065394.1:p.Val76=
NM_020533.3:c.228C= MANE Select	NP_065394.1:p.Val76=