Canonical Allele Identifier: CA2320961146

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525142C= , CM000681.2:g.7525142C=	GRCh38
NC_000019.9:g.7590028C= , CM000681.1:g.7590028C=	GRCh37
NC_000019.8:g.7496028C=	NCBI36
NG_015806.1:g.7533C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.213C= MANE Select	ENSP00000264079.5:p.Val71=
ENST00000264079.10:c.213C=	ENSP00000264079.5:p.Val71=
ENST00000394321.9:n.293C=
ENST00000596390.1:n.329C=
ENST00000601003.1:c.213C=	ENSP00000469074.1:p.Val71=
NM_020533.2:c.213C=	NP_065394.1:p.Val71=
NM_020533.3:c.213C= MANE Select	NP_065394.1:p.Val71=