Canonical Allele Identifier: CA2320962369

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527558C= , CM000681.2:g.7527558C=	GRCh38
NC_000019.9:g.7592444C= , CM000681.1:g.7592444C=	GRCh37
NC_000019.8:g.7498444C=	NCBI36
NG_015806.1:g.9949C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.610C= MANE Select	ENSP00000264079.5:p.Pro204=
ENST00000264079.10:c.610C=	ENSP00000264079.5:p.Pro204=
ENST00000394321.9:n.690C=
ENST00000598406.1:n.431C=
ENST00000601003.1:c.572-306C=	ENSP00000469074.1:n.572-306C=
NM_020533.2:c.610C=	NP_065394.1:p.Pro204=
NM_020533.3:c.610C= MANE Select	NP_065394.1:p.Pro204=