Canonical Allele Identifier: CA2320963411

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529603C= , CM000681.2:g.7529603C=	GRCh38
NC_000019.9:g.7594489C= , CM000681.1:g.7594489C=	GRCh37
NC_000019.8:g.7500489C=	NCBI36
NG_013374.1:g.452C=
NG_015806.1:g.11994C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1250C= MANE Select	ENSP00000264079.5:p.Thr417=
ENST00000264079.10:c.1250C=	ENSP00000264079.5:p.Thr417=
ENST00000394321.9:n.1565C=
ENST00000594692.1:n.246C=
ENST00000595860.5:n.433C=
ENST00000599334.1:c.127C=
NM_020533.2:c.1250C=	NP_065394.1:p.Thr417=
NM_020533.3:c.1250C= MANE Select	NP_065394.1:p.Thr417=