Canonical Allele Identifier: CA2320962032

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526928T= , CM000681.2:g.7526928T=	GRCh38
NC_000019.9:g.7591814T= , CM000681.1:g.7591814T=	GRCh37
NC_000019.8:g.7497814T=	NCBI36
NG_015806.1:g.9319T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+2T= MANE Select	ENSP00000264079.5:n.571+2T=
ENST00000264079.10:c.571+2T=	ENSP00000264079.5:n.571+2T=
ENST00000394321.9:n.651+2T=
ENST00000596008.1:n.535T=
ENST00000598406.1:n.392+2T=
ENST00000601003.1:c.571+2T=	ENSP00000469074.1:n.571+2T=
NM_020533.2:c.571+2T=	NP_065394.1:n.571+2T=
NM_020533.3:c.571+2T= MANE Select	NP_065394.1:n.571+2T=