Canonical Allele Identifier: CA2320963420

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529617C= , CM000681.2:g.7529617C=	GRCh38
NC_000019.9:g.7594503C= , CM000681.1:g.7594503C=	GRCh37
NC_000019.8:g.7500503C=	NCBI36
NG_013374.1:g.466C=
NG_015806.1:g.12008C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1264C= MANE Select	ENSP00000264079.5:p.Leu422=
ENST00000264079.10:c.1264C=	ENSP00000264079.5:p.Leu422=
ENST00000394321.9:n.1579C=
ENST00000594692.1:n.260C=
ENST00000595860.5:n.447C=
ENST00000599334.1:c.141C=
NM_020533.2:c.1264C=	NP_065394.1:p.Leu422=
NM_020533.3:c.1264C= MANE Select	NP_065394.1:p.Leu422=