Canonical Allele Identifier: CA2320962390

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527608C= , CM000681.2:g.7527608C=	GRCh38
NC_000019.9:g.7592494C= , CM000681.1:g.7592494C=	GRCh37
NC_000019.8:g.7498494C=	NCBI36
NG_015806.1:g.9999C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.660C= MANE Select	ENSP00000264079.5:p.Asn220=
ENST00000264079.10:c.660C=	ENSP00000264079.5:p.Asn220=
ENST00000394321.9:n.740C=
ENST00000598406.1:n.481C=
ENST00000601003.1:c.572-256C=	ENSP00000469074.1:n.572-256C=
NM_020533.2:c.660C=	NP_065394.1:p.Asn220=
NM_020533.3:c.660C= MANE Select	NP_065394.1:p.Asn220=